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Volumn 8, Issue 1, 2013, Pages

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

Author keywords

Induced pluripotent stem cells; Lysosomal storage disorder; Neural differentiation; Neural progenitor cells; Niemann Pick Type C1

Indexed keywords

CHOLESTEROL; FILIPIN; KRUPPEL LIKE FACTOR 4; OCTAMER TRANSCRIPTION FACTOR 4; TRANSCRIPTION FACTOR NANOG; TRANSCRIPTION FACTOR SOX2;

EID: 84884173944     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-144     Document Type: Article
Times cited : (41)

References (48)
  • 1
    • 36248966518 scopus 로고    scopus 로고
    • Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
    • DOI 10.1016/j.cell.2007.11.019, PII S0092867407014717
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S, Cell 2007 131 861 872 10.1016/j.cell.2007.11.019 18035408 (Pubitemid 350138099)
    • (2007) Cell , vol.131 , Issue.5 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4    Ichisaka, T.5    Tomoda, K.6    Yamanaka, S.7
  • 3
    • 70450247528 scopus 로고    scopus 로고
    • Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders
    • 10.1182/blood-2009-04-217406 19797525
    • Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders. Ye Z, Zhan H, Mali P, Dowey S, Williams DM, Jang YY, Dang CV, Spivak JL, Moliterno AR, Cheng L, Blood 2009 114 5473 5480 10.1182/blood-2009-04-217406 19797525
    • (2009) Blood , vol.114 , pp. 5473-5480
    • Ye, Z.1    Zhan, H.2    Mali, P.3    Dowey, S.4    Williams, D.M.5    Jang, Y.Y.6    Dang, C.V.7    Spivak, J.L.8    Moliterno, A.R.9    Cheng, L.10
  • 4
    • 77951473757 scopus 로고    scopus 로고
    • Generation of endoderm-derived human induced pluripotent stem cells from primary hepatocytes
    • 10.1002/hep.23626 20432258
    • Generation of endoderm-derived human induced pluripotent stem cells from primary hepatocytes. Liu H, Ye Z, Kim Y, Sharkis S, Jang YY, Hepatology 2010 51 1810 1819 10.1002/hep.23626 20432258
    • (2010) Hepatology , vol.51 , pp. 1810-1819
    • Liu, H.1    Ye, Z.2    Kim, Y.3    Sharkis, S.4    Jang, Y.Y.5
  • 7
    • 64149118087 scopus 로고    scopus 로고
    • Highly efficient differentiation of human ES cells and iPS cells into mature pancreatic insulin-producing cells
    • 10.1038/cr.2009.28 19255591
    • Highly efficient differentiation of human ES cells and iPS cells into mature pancreatic insulin-producing cells. Zhang D, Jiang W, Liu M, Sui X, Yin X, Chen S, Shi Y, Deng H, Cell Res 2009 19 429 438 10.1038/cr.2009.28 19255591
    • (2009) Cell Res , vol.19 , pp. 429-438
    • Zhang, D.1    Jiang, W.2    Liu, M.3    Sui, X.4    Yin, X.5    Chen, S.6    Shi, Y.7    Deng, H.8
  • 8
    • 84862815616 scopus 로고    scopus 로고
    • Derivation of male germ cells from induced pluripotent stem cells in vitro and in reconstituted seminiferous tubules
    • 10.1111/j.1365-2184.2012.00811.x 22324506
    • Derivation of male germ cells from induced pluripotent stem cells in vitro and in reconstituted seminiferous tubules. Yang S, Bo J, Hu H, Guo X, Tian R, Sun C, Zhu Y, Li P, Liu P, Zou S, et al. Cell Prolif 2012 45 91 100 10.1111/j.1365-2184.2012.00811.x 22324506
    • (2012) Cell Prolif , vol.45 , pp. 91-100
    • Yang, S.1    Bo, J.2    Hu, H.3    Guo, X.4    Tian, R.5    Sun, C.6    Zhu, Y.7    Li, P.8    Liu, P.9    Zou, S.10
  • 11
    • 79951849153 scopus 로고    scopus 로고
    • Modeling retinal degeneration using patient-specific induced pluripotent stem cells
    • 10.1371/journal.pone.0017084 21347327
    • Modeling retinal degeneration using patient-specific induced pluripotent stem cells. Jin ZB, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, Iwata T, Takahashi M, PLoS ONE 2011 6 17084 10.1371/journal.pone.0017084 21347327
    • (2011) PLoS ONE , vol.6 , pp. 517084
    • Jin, Z.B.1    Okamoto, S.2    Osakada, F.3    Homma, K.4    Assawachananont, J.5    Hirami, Y.6    Iwata, T.7    Takahashi, M.8
  • 12
    • 84873337576 scopus 로고    scopus 로고
    • Characterization of human Huntington's disease cell model from induced pluripotent stem cells
    • RRN1193
    • Characterization of human Huntington's disease cell model from induced pluripotent stem cells. Zhang N, An MC, Montoro D, Ellerby LM, PLoS Curr 2010 2 RRN1193
    • (2010) PLoS Curr , vol.2
    • Zhang, N.1    An, M.C.2    Montoro, D.3    Ellerby, L.M.4
  • 13
    • 80052246984 scopus 로고    scopus 로고
    • Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells
    • 10.1093/hmg/ddr285 21685203
    • Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells. Lemonnier T, Blanchard S, Toli D, Roy E, Bigou S, Froissart R, Rouvet I, Vitry S, Heard JM, Bohl D, Hum Mol Genet 2011 20 3653 3666 10.1093/hmg/ddr285 21685203
    • (2011) Hum Mol Genet , vol.20 , pp. 3653-3666
    • Lemonnier, T.1    Blanchard, S.2    Toli, D.3    Roy, E.4    Bigou, S.5    Froissart, R.6    Rouvet, I.7    Vitry, S.8    Heard, J.M.9    Bohl, D.10
  • 14
    • 68249108915 scopus 로고    scopus 로고
    • The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells
    • 10.1016/j.bbrc.2009.07.052 19615974
    • The effects of cardioactive drugs on cardiomyocytes derived from human induced pluripotent stem cells. Yokoo N, Baba S, Kaichi S, Niwa A, Mima T, Doi H, Yamanaka S, Nakahata T, Heike T, Biochem Biophys Res Commun 2009 387 482 488 10.1016/j.bbrc.2009.07.052 19615974
    • (2009) Biochem Biophys Res Commun , vol.387 , pp. 482-488
    • Yokoo, N.1    Baba, S.2    Kaichi, S.3    Niwa, A.4    Mima, T.5    Doi, H.6    Yamanaka, S.7    Nakahata, T.8    Heike, T.9
  • 17
    • 0034637440 scopus 로고    scopus 로고
    • Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein
    • DOI 10.1074/jbc.M002184200
    • Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. Davies JP, Ioannou YA, J Biol Chem 2000 275 24367 24374 10.1074/jbc.M002184200 10821832 (Pubitemid 30626526)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.32 , pp. 24367-24374
    • Davies, J.P.1    Ioannou, Y.A.2
  • 18
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • 10.1186/1750-1172-5-16 20525256
    • Niemann-Pick disease type C. Vanier MT, Orphanet J Rare Dis 2010 5 16 10.1186/1750-1172-5-16 20525256
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 16
    • Vanier, M.T.1
  • 21
    • 0024539791 scopus 로고
    • The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts
    • DOI 10.1083/jcb.108.5.1625
    • The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. Liscum L, Ruggiero RM, Faust JR, J Cell Biol 1989 108 1625 1636 10.1083/jcb.108.5.1625 2715172 (Pubitemid 19130495)
    • (1989) Journal of Cell Biology , vol.108 , Issue.5 , pp. 1625-1636
    • Liscum, L.1    Ruggiero, R.M.2    Faust, J.R.3
  • 22
    • 71549134227 scopus 로고    scopus 로고
    • Oxidative stress in NPC1 deficient cells: Protective effect of allopregnanolone
    • 10.1111/j.1582-4934.2008.00493.x 18774957
    • Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. Zampieri S, Mellon SH, Butters TD, Nevyjel M, Covey DF, Bembi B, Dardis A, J Cell Mol Med 2009 13 3786 3796 10.1111/j.1582-4934.2008.00493.x 18774957
    • (2009) J Cell Mol Med , vol.13 , pp. 3786-3796
    • Zampieri, S.1    Mellon, S.H.2    Butters, T.D.3    Nevyjel, M.4    Covey, D.F.5    Bembi, B.6    Dardis, A.7
  • 23
    • 67549105629 scopus 로고    scopus 로고
    • Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol
    • 10.1016/j.cell.2009.03.049 19563754
    • Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Kwon HJ, Abi-Mosleh L, Wang ML, Deisenhofer J, Goldstein JL, Brown MS, Infante RE, Cell 2009 137 1213 1224 10.1016/j.cell.2009.03.049 19563754
    • (2009) Cell , vol.137 , pp. 1213-1224
    • Kwon, H.J.1    Abi-Mosleh, L.2    Wang, M.L.3    Deisenhofer, J.4    Goldstein, J.L.5    Brown, M.S.6    Infante, R.E.7
  • 25
    • 55849145140 scopus 로고    scopus 로고
    • Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease
    • 10.1203/PDR.0b013e318184d2ce 18614965
    • Clinical, electrophysiological, and serum biochemical measures of progressive neurological and hepatic dysfunction in feline Niemann-Pick type C disease. Vite CH, Ding W, Bryan C, O'Donnell P, Cullen K, Aleman D, Haskins ME, Van Winkle T, Pediatr Res 2008 64 544 549 10.1203/PDR.0b013e318184d2ce 18614965
    • (2008) Pediatr Res , vol.64 , pp. 544-549
    • Vite, C.H.1    Ding, W.2    Bryan, C.3    O'Donnell, P.4    Cullen, K.5    Aleman, D.6    Haskins, M.E.7    Van Winkle, T.8
  • 26
    • 28844473468 scopus 로고    scopus 로고
    • A Drosophila model of the Niemann-Pick type C lysosome storage disease: Dnpc1a is required for molting and sterol homeostasis
    • DOI 10.1242/dev.02079
    • A drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis. Huang X, Suyama K, Buchanan J, Zhu AJ, Scott MP, Development 2005 132 5115 5124 10.1242/dev.02079 16221727 (Pubitemid 41764021)
    • (2005) Development , vol.132 , Issue.22 , pp. 5115-5124
    • Huang, X.1    Suyama, K.2    Buchanan, J.3    Zhu, A.J.4    Scott, M.P.5
  • 27
    • 67649275699 scopus 로고    scopus 로고
    • Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells
    • 10.1016/j.bbalip.2009.01.025 19416638
    • Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Karten B, Peake KB, Vance JE, Biochim Biophys Acta 2009 1791 659 670 10.1016/j.bbalip.2009.01.025 19416638
    • (2009) Biochim Biophys Acta , vol.1791 , pp. 659-670
    • Karten, B.1    Peake, K.B.2    Vance, J.E.3
  • 28
    • 0019124675 scopus 로고
    • A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase
    • A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Pentchev PG, Gal AE, Booth AD, Omodeo-Sale F, Fouks J, Neumeyer BA, Quirk JM, Dawson G, Brady RO, Biochim Biophys Acta 1980 619 669 679 10.1016/0005-2760(80)90116-2 6257302 (Pubitemid 11201153)
    • (1980) Biochimica et Biophysica Acta , vol.619 , Issue.3 , pp. 669-679
    • Pentchev, P.G.1    Gal, A.E.2    Booth, A.D.3
  • 29
  • 32
    • 79955786943 scopus 로고    scopus 로고
    • Mitochondrial parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells
    • 10.1523/JNEUROSCI.4441-10.2011 21508222
    • Mitochondrial parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. Seibler P, Graziotto J, Jeong H, Simunovic F, Klein C, Krainc D, J Neurosci 2011 31 5970 5976 10.1523/JNEUROSCI.4441-10.2011 21508222
    • (2011) J Neurosci , vol.31 , pp. 5970-5976
    • Seibler, P.1    Graziotto, J.2    Jeong, H.3    Simunovic, F.4    Klein, C.5    Krainc, D.6
  • 33
    • 79953312249 scopus 로고    scopus 로고
    • Niemann-Pick type C disease: Characterizing lipid levels in patients with variant lysosomal cholesterol storage
    • 10.1194/jlr.P013524 21245028
    • Niemann-Pick type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. Tängemo C, Weber D, Theiss S, Mengel E, Runz H, J Lipid Res 2011 52 813 825 10.1194/jlr.P013524 21245028
    • (2011) J Lipid Res , vol.52 , pp. 813-825
    • Tängemo, C.1    Weber, D.2    Theiss, S.3    Mengel, E.4    Runz, H.5
  • 34
    • 46949085597 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells by defined factors is greatly improved by small-molecule compounds
    • DOI 10.1038/nbt1418, PII NBT1418
    • Induction of pluripotent stem cells by defined factors is greatly improved by small-molecule compounds. Huangfu D, Maehr R, Guo W, Eijkelenboom A, Snitow M, Chen AE, Melton DA, Nat Biotechnol 2008 26 795 797 10.1038/nbt1418 18568017 (Pubitemid 351961456)
    • (2008) Nature Biotechnology , vol.26 , Issue.7 , pp. 795-797
    • Huangfu, D.1    Maehr, R.2    Guo, W.3    Eijkelenboom, A.4    Snitow, M.5    Chen, A.E.6    Melton, D.A.7
  • 35
    • 3042732990 scopus 로고    scopus 로고
    • Retrovirus silencing, variegation, extinction, and memory are controlled by a dynamic interplay of multiple epigenetic modifications
    • DOI 10.1016/j.ymthe.2004.04.007, PII S1525001604001376
    • Retrovirus silencing, variegation, extinction, and memory are controlled by a dynamic interplay of multiple epigenetic modifications. Yao S, Sukonnik T, Kean T, Bharadwaj RR, Pasceri P, Ellis J, Mol Ther 2004 10 27 36 10.1016/j.ymthe.2004.04.007 15233939 (Pubitemid 38878146)
    • (2004) Molecular Therapy , vol.10 , Issue.1 , pp. 27-36
    • Yao, S.1    Sukonnik, T.2    Kean, T.3    Bharadwaj, R.R.4    Pasceri, P.5    Ellis, J.6
  • 36
    • 84861726112 scopus 로고    scopus 로고
    • Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1
    • 10.1093/hmg/dds090 22437840
    • Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1. Ordonez MP, Roberts EA, Kidwell CU, Yuan SH, Plaisted WC, Goldstein LS, Hum Mol Genet 2012 21 2651 2662 10.1093/hmg/dds090 22437840
    • (2012) Hum Mol Genet , vol.21 , pp. 2651-2662
    • Ordonez, M.P.1    Roberts, E.A.2    Kidwell, C.U.3    Yuan, S.H.4    Plaisted, W.C.5    Goldstein, L.S.6
  • 38
    • 84859767940 scopus 로고    scopus 로고
    • Analysis of embryoid bodies derived from human induced pluripotent stem cells as a means to assess pluripotency
    • 22550517
    • Analysis of embryoid bodies derived from human induced pluripotent stem cells as a means to assess pluripotency. Sheridan SD, Surampudi V, Rao RR, Stem Cells Int 2012 2012 738910 22550517
    • (2012) Stem Cells Int , vol.2012 , pp. 738910
    • Sheridan, S.D.1    Surampudi, V.2    Rao, R.R.3
  • 39
    • 34548420596 scopus 로고    scopus 로고
    • Teratoma Formation Assays with Human Embryonic Stem Cells: A Rationale for One Type of Human-Animal Chimera
    • DOI 10.1016/j.stem.2007.07.019, PII S1934590907000860
    • Teratoma formation assays with human embryonic stem cells: a rationale for one type of human-animal chimera. Lensch MW, Schlaeger TM, Zon LI, Daley GQ, Cell Stem Cell 2007 1 253 258 10.1016/j.stem.2007.07.019 18371359 (Pubitemid 47355327)
    • (2007) Cell Stem Cell , vol.1 , Issue.3 , pp. 253-258
    • Lensch, M.W.1    Schlaeger, T.M.2    Zon, L.I.3    Daley, G.Q.4
  • 40
    • 84885422476 scopus 로고    scopus 로고
    • Generation of a human neuronal stable cell model for Niemann-Pick C disease by RNA interference
    • 23430894
    • Generation of a human neuronal stable cell model for Niemann-Pick C disease by RNA interference. Rodriguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D, JIMD Rep 2012 4 29 37 23430894
    • (2012) JIMD Rep , vol.4 , pp. 29-37
    • Rodriguez-Pascau, L.1    Coll, M.J.2    Casas, J.3    Vilageliu, L.4    Grinberg, D.5
  • 41
    • 38349062515 scopus 로고    scopus 로고
    • Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage
    • 10.1101/gad.1616208 18198334
    • Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage. Elkabetz Y, Panagiotakos G, Al Shamy G, Socci ND, Tabar V, Studer L, Genes Dev 2008 22 152 165 10.1101/gad.1616208 18198334
    • (2008) Genes Dev , vol.22 , pp. 152-165
    • Elkabetz, Y.1    Panagiotakos, G.2    Al Shamy, G.3    Socci, N.D.4    Tabar, V.5    Studer, L.6
  • 42
    • 33746877155 scopus 로고    scopus 로고
    • NPC1 gene deficiency leads to lack of neural stem cell self-renewal and abnormal differentiation through activation of p38 mitogen-activated protein kinase signaling
    • DOI 10.1634/stemcells.2005-0221
    • NPC1 gene deficiency leads to lack of neural stem cell self-renewal and abnormal differentiation through activation of p38 mitogen-activated protein kinase signaling. Yang SR, Kim SJ, Byun KH, Hutchinson B, Lee BH, Michikawa M, Lee YS, Kang KS, Stem Cells 2006 24 292 298 10.1634/stemcells.2005-0221 16099992 (Pubitemid 44464797)
    • (2006) Stem Cells , vol.24 , Issue.2 , pp. 292-298
    • Yang, S.-R.1    Kim, S.-J.2    Byun, K.-H.3    Hutchinson, B.4    Lee, B.-H.5    Michikawa, M.6    Lee, Y.-S.7    Kang, K.-S.8
  • 43
    • 84877301288 scopus 로고    scopus 로고
    • Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development
    • 10.1016/j.stem.2013.04.005 23642366
    • Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Nicholas CR, Chen J, Tang Y, Southwell DG, Chalmers N, Vogt D, Arnold CM, Chen YJ, Stanley EG, Elefanty AG, et al. Cell Stem Cell 2013 12 573 586 10.1016/j.stem.2013.04.005 23642366
    • (2013) Cell Stem Cell , vol.12 , pp. 573-586
    • Nicholas, C.R.1    Chen, J.2    Tang, Y.3    Southwell, D.G.4    Chalmers, N.5    Vogt, D.6    Arnold, C.M.7    Chen, Y.J.8    Stanley, E.G.9    Elefanty, A.G.10
  • 44
    • 84877252927 scopus 로고    scopus 로고
    • Human cortical interneurons take their time
    • 10.1016/j.stem.2013.04.017 23642355
    • Human cortical interneurons take their time. Marin O, Cell Stem Cell 2013 12 497 499 10.1016/j.stem.2013.04.017 23642355
    • (2013) Cell Stem Cell , vol.12 , pp. 497-499
    • Marin, O.1
  • 45
    • 0030809298 scopus 로고    scopus 로고
    • GABAergic and glycinergic IPSCs in ganglion cells of rat retinal slices
    • GABAergic and glycinergic IPSCs in ganglion cells of rat retinal slices. Protti DA, Gerschenfeld HM, Llano I, J Neurosci 1997 17 6075 6085 9236219 (Pubitemid 27329883)
    • (1997) Journal of Neuroscience , vol.17 , Issue.16 , pp. 6075-6085
    • Protti, D.A.1    Gerschenfeld, H.M.2    Llano, I.3
  • 46
    • 0034786783 scopus 로고    scopus 로고
    • Characterization of the spontaneous synaptic activity of amacrine cells in the mouse retina
    • Characterization of the spontaneous synaptic activity of amacrine cells in the mouse retina. Frech MJ, Perez-Leon J, Wassle H, Backus KH, J Neurophysiol 2001 86 1632 1643 11600626 (Pubitemid 32953214)
    • (2001) Journal of Neurophysiology , vol.86 , Issue.4 , pp. 1632-1643
    • Frech, M.J.1    Perez-Leon, J.2    Wassle, H.3    Backus, K.H.4
  • 47
    • 33847616010 scopus 로고    scopus 로고
    • Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling
    • DOI 10.1113/jphysiol.2006.123133
    • Cholesterol-dependent balance between evoked and spontaneous synaptic vesicle recycling. Wasser CR, Ertunc M, Liu X, Kavalali ET, J Physiol 2007 579 413 429 17170046 (Pubitemid 46351759)
    • (2007) Journal of Physiology , vol.579 , Issue.2 , pp. 413-429
    • Wasser, C.R.1    Ertunc, M.2    Liu, X.3    Kavalali, E.T.4


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