메뉴 건너뛰기




Volumn 17, Issue 2, 2016, Pages 296-305

Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells

Author keywords

Ataxia Telangiectasia; ATM; induced pluripotent stem cells; radiation; telomere; teratoma

Indexed keywords

ATM PROTEIN; PROTEIN BCL XL; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; YAMANAKA FACTOR; ATM PROTEIN, HUMAN;

EID: 84985021251     PISSN: 18735061     EISSN: 18767753     Source Type: Journal    
DOI: 10.1016/j.scr.2016.08.006     Document Type: Article
Times cited : (5)

References (69)
  • 2
    • 84929484543 scopus 로고    scopus 로고
    • Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis
    • Alder, J.K., Stanley, S.E., Wagner, C.L., Hamilton, M., Hanumanthu, V.S., Armanios, M., Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. Chest 147 (2015), 1361–1368.
    • (2015) Chest , vol.147 , pp. 1361-1368
    • Alder, J.K.1    Stanley, S.E.2    Wagner, C.L.3    Hamilton, M.4    Hanumanthu, V.S.5    Armanios, M.6
  • 3
    • 84878527709 scopus 로고    scopus 로고
    • Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions
    • Ambrose, M., Gatti, R.A., Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood 121 (2013), 4036–4045.
    • (2013) Blood , vol.121 , pp. 4036-4045
    • Ambrose, M.1    Gatti, R.A.2
  • 4
    • 0034669082 scopus 로고    scopus 로고
    • Clonally derived human embryonic stem cell lines maintain pluripotency and proliferative potential for prolonged periods of culture
    • Amit, M., Carpenter, M.K., Inokuma, M.S., Chiu, C.P., Harris, C.P., Waknitz, M.A., Itskovitz-Eldor, J., Thomson, J.A., Clonally derived human embryonic stem cell lines maintain pluripotency and proliferative potential for prolonged periods of culture. Dev. Biol. 227 (2000), 271–278.
    • (2000) Dev. Biol. , vol.227 , pp. 271-278
    • Amit, M.1    Carpenter, M.K.2    Inokuma, M.S.3    Chiu, C.P.4    Harris, C.P.5    Waknitz, M.A.6    Itskovitz-Eldor, J.7    Thomson, J.A.8
  • 5
    • 34548852722 scopus 로고    scopus 로고
    • Flow cytometry and FISH to measure the average length of telomeres (flow FISH)
    • Baerlocher, G.M., Vulto, I., de Jong, G., Lansdorp, P.M., Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat. Protoc. 1 (2006), 2365–2376.
    • (2006) Nat. Protoc. , vol.1 , pp. 2365-2376
    • Baerlocher, G.M.1    Vulto, I.2    de Jong, G.3    Lansdorp, P.M.4
  • 6
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist, C.J., Kastan, M.B., DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 421 (2003), 499–506.
    • (2003) Nature , vol.421 , pp. 499-506
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 11
    • 78651043982 scopus 로고
    • Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
    • Boder, E., Sedgwick, R.P., Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21 (1958), 526–554.
    • (1958) Pediatrics , vol.21 , pp. 526-554
    • Boder, E.1    Sedgwick, R.P.2
  • 16
    • 84880624619 scopus 로고    scopus 로고
    • ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration
    • Carlessi, L., Fusar Poli, E., De Filippis, L., Delia, D., ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration. DNA Repair 12 (2013), 605–611.
    • (2013) DNA Repair , vol.12 , pp. 605-611
    • Carlessi, L.1    Fusar Poli, E.2    De Filippis, L.3    Delia, D.4
  • 17
    • 62149125434 scopus 로고    scopus 로고
    • Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
    • Chambers, S.M., Fasano, C.A., Papapetrou, E.P., Tomishima, M., Sadelain, M., Studer, L., Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat. Biotechnol. 27 (2009), 275–280.
    • (2009) Nat. Biotechnol. , vol.27 , pp. 275-280
    • Chambers, S.M.1    Fasano, C.A.2    Papapetrou, E.P.3    Tomishima, M.4    Sadelain, M.5    Studer, L.6
  • 18
    • 79952536226 scopus 로고    scopus 로고
    • Efficient human iPS cell derivation by a non-integrating plasmid from blood cells with unique epigenetic and gene expression signatures
    • Chou, B.K., Mali, P., Huang, X., Ye, Z., Dowey, S.N., Resar, L.M., Zou, C., Zhang, Y.A., Tong, J., Cheng, L., Efficient human iPS cell derivation by a non-integrating plasmid from blood cells with unique epigenetic and gene expression signatures. Cell Res. 21 (2011), 518–529.
    • (2011) Cell Res. , vol.21 , pp. 518-529
    • Chou, B.K.1    Mali, P.2    Huang, X.3    Ye, Z.4    Dowey, S.N.5    Resar, L.M.6    Zou, C.7    Zhang, Y.A.8    Tong, J.9    Cheng, L.10
  • 19
    • 84930475875 scopus 로고    scopus 로고
    • A facile method to establish human induced pluripotent stem cells from adult blood cells under feeder-free and xeno-free culture conditions: a clinically compliant approach
    • Chou, B.K., Gu, H., Gao, Y., Dowey, S.N., Wang, Y., Shi, J., Li, Y., Ye, Z., Cheng, T., Cheng, L., A facile method to establish human induced pluripotent stem cells from adult blood cells under feeder-free and xeno-free culture conditions: a clinically compliant approach. Stem Cells Transl. Med. 4 (2015), 320–332.
    • (2015) Stem Cells Transl. Med. , vol.4 , pp. 320-332
    • Chou, B.K.1    Gu, H.2    Gao, Y.3    Dowey, S.N.4    Wang, Y.5    Shi, J.6    Li, Y.7    Ye, Z.8    Cheng, T.9    Cheng, L.10
  • 20
    • 84868154075 scopus 로고    scopus 로고
    • Generation of integration-free human induced pluripotent stem cells from postnatal blood mononuclear cells by plasmid vector expression
    • Dowey, S.N., Huang, X., Chou, B.K., Ye, Z., Cheng, L., Generation of integration-free human induced pluripotent stem cells from postnatal blood mononuclear cells by plasmid vector expression. Nat. Protoc. 7 (2012), 2013–2021.
    • (2012) Nat. Protoc. , vol.7 , pp. 2013-2021
    • Dowey, S.N.1    Huang, X.2    Chou, B.K.3    Ye, Z.4    Cheng, L.5
  • 21
    • 77950995392 scopus 로고    scopus 로고
    • Hemangioblastic derivatives from human induced pluripotent stem cells exhibit limited expansion and early senescence
    • Feng, Q., Lu, S.J., Klimanskaya, I., Gomes, I., Kim, D., Chung, Y., Honig, G.R., Kim, K.S., Lanza, R., Hemangioblastic derivatives from human induced pluripotent stem cells exhibit limited expansion and early senescence. Stem Cells 28 (2010), 704–712.
    • (2010) Stem Cells , vol.28 , pp. 704-712
    • Feng, Q.1    Lu, S.J.2    Klimanskaya, I.3    Gomes, I.4    Kim, D.5    Chung, Y.6    Honig, G.R.7    Kim, K.S.8    Lanza, R.9
  • 24
    • 84875805512 scopus 로고    scopus 로고
    • Homologous recombination DNA repair genes play a critical role in reprogramming to a pluripotent state
    • Gonzalez, F., Georgieva, D., Vanoli, F., Shi, Z.D., Stadtfeld, M., Ludwig, T., Jasin, M., Huangfu, D., Homologous recombination DNA repair genes play a critical role in reprogramming to a pluripotent state. Cell Rep. 3 (2013), 651–660.
    • (2013) Cell Rep. , vol.3 , pp. 651-660
    • Gonzalez, F.1    Georgieva, D.2    Vanoli, F.3    Shi, Z.D.4    Stadtfeld, M.5    Ludwig, T.6    Jasin, M.7    Huangfu, D.8
  • 25
    • 47349107760 scopus 로고    scopus 로고
    • ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin
    • Goodarzi, A.A., Noon, A.T., Deckbar, D., Ziv, Y., Shiloh, Y., Lobrich, M., Jeggo, P.A., ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin. Mol. Cell 31 (2008), 167–177.
    • (2008) Mol. Cell , vol.31 , pp. 167-177
    • Goodarzi, A.A.1    Noon, A.T.2    Deckbar, D.3    Ziv, Y.4    Shiloh, Y.5    Lobrich, M.6    Jeggo, P.A.7
  • 26
    • 79953826088 scopus 로고    scopus 로고
    • Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells
    • Hu, K., Yu, J., Suknuntha, K., Tian, S., Montgomery, K., Choi, K.D., Stewart, R., Thomson, J.A., Slukvin, I.I., Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells. Blood 117 (2011), e109–e119.
    • (2011) Blood , vol.117 , pp. e109-e119
    • Hu, K.1    Yu, J.2    Suknuntha, K.3    Tian, S.4    Montgomery, K.5    Choi, K.D.6    Stewart, R.7    Thomson, J.A.8    Slukvin, I.I.9
  • 27
    • 79955573452 scopus 로고    scopus 로고
    • Association of telomere length with authentic pluripotency of ES/iPS cells
    • Huang, J., Wang, F., Okuka, M., Liu, N., Ji, G., Ye, X., Zuo, B., Li, M., Liang, P., Ge, W.W., et al. Association of telomere length with authentic pluripotency of ES/iPS cells. Cell Res. 21 (2011), 779–792.
    • (2011) Cell Res. , vol.21 , pp. 779-792
    • Huang, J.1    Wang, F.2    Okuka, M.3    Liu, N.4    Ji, G.5    Ye, X.6    Zuo, B.7    Li, M.8    Liang, P.9    Ge, W.W.10
  • 28
    • 0024461719 scopus 로고
    • Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia
    • Kojis, T.L., Schreck, R.R., Gatti, R.A., Sparkes, R.S., Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum. Genet. 83 (1989), 347–352.
    • (1989) Hum. Genet. , vol.83 , pp. 347-352
    • Kojis, T.L.1    Schreck, R.R.2    Gatti, R.A.3    Sparkes, R.S.4
  • 30
    • 52449114574 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
    • Lavin, M.F., Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat. Rev. Mol. Cell Biol. 9 (2008), 759–769.
    • (2008) Nat. Rev. Mol. Cell Biol. , vol.9 , pp. 759-769
    • Lavin, M.F.1
  • 31
    • 84880606646 scopus 로고    scopus 로고
    • The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration
    • Lavin, M.F., The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. DNA Repair 12 (2013), 612–619.
    • (2013) DNA Repair , vol.12 , pp. 612-619
    • Lavin, M.F.1
  • 33
    • 84952874391 scopus 로고    scopus 로고
    • ATM Kinase Is Required for Telomere Elongation in Mouse and Human Cells
    • Lee, S.S., Bohrson, C., Pike, A.M., Wheelan, S.J., Greider, C.W., ATM Kinase Is Required for Telomere Elongation in Mouse and Human Cells. Cell Rep. 13 (2015), 1623–1632.
    • (2015) Cell Rep. , vol.13 , pp. 1623-1632
    • Lee, S.S.1    Bohrson, C.2    Pike, A.M.3    Wheelan, S.J.4    Greider, C.W.5
  • 34
    • 0025876591 scopus 로고
    • The p53 tumour suppressor gene
    • Levine, A.J., Momand, J., Finlay, C.A., The p53 tumour suppressor gene. Nature 351 (1991), 453–456.
    • (1991) Nature , vol.351 , pp. 453-456
    • Levine, A.J.1    Momand, J.2    Finlay, C.A.3
  • 36
    • 84855398949 scopus 로고    scopus 로고
    • Concise review: Human cell engineering: cellular reprogramming and genome editing
    • Mali, P., Cheng, L., Concise review: Human cell engineering: cellular reprogramming and genome editing. Stem Cells 30 (2012), 75–81.
    • (2012) Stem Cells , vol.30 , pp. 75-81
    • Mali, P.1    Cheng, L.2
  • 39
    • 84856866360 scopus 로고    scopus 로고
    • ATM and the molecular pathogenesis of ataxia telangiectasia
    • McKinnon, P.J., ATM and the molecular pathogenesis of ataxia telangiectasia. Annu. Rev. Pathol. 7 (2012), 303–321.
    • (2012) Annu. Rev. Pathol. , vol.7 , pp. 303-321
    • McKinnon, P.J.1
  • 42
    • 84922791023 scopus 로고    scopus 로고
    • Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells
    • Muguruma, K., Nishiyama, A., Kawakami, H., Hashimoto, K., Sasai, Y., Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells. Cell Rep. 10 (2015), 537–550.
    • (2015) Cell Rep. , vol.10 , pp. 537-550
    • Muguruma, K.1    Nishiyama, A.2    Kawakami, H.3    Hashimoto, K.4    Sasai, Y.5
  • 45
    • 0032555458 scopus 로고    scopus 로고
    • Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development
    • Oka, A., Takashima, S., Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci. Lett. 252 (1998), 195–198.
    • (1998) Neurosci. Lett. , vol.252 , pp. 195-198
    • Oka, A.1    Takashima, S.2
  • 46
    • 77951980886 scopus 로고    scopus 로고
    • Differential requirement for H2AX and 53BP1 in organismal development and genome maintenance in the absence of poly(ADP)ribosyl polymerase 1
    • Orsburn, B., Escudero, B., Prakash, M., Gesheva, S., Liu, G., Huso, D.L., Franco, S., Differential requirement for H2AX and 53BP1 in organismal development and genome maintenance in the absence of poly(ADP)ribosyl polymerase 1. Mol. Cell. Biol. 30 (2010), 2341–2352.
    • (2010) Mol. Cell. Biol. , vol.30 , pp. 2341-2352
    • Orsburn, B.1    Escudero, B.2    Prakash, M.3    Gesheva, S.4    Liu, G.5    Huso, D.L.6    Franco, S.7
  • 47
    • 0028980925 scopus 로고
    • Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells
    • Pandita, T.K., Pathak, S., Geard, C.R., Chromosome end associations, telomeres and telomerase activity in ataxia telangiectasia cells. Cytogenet. Cell Genet. 71 (1995), 86–93.
    • (1995) Cytogenet. Cell Genet. , vol.71 , pp. 86-93
    • Pandita, T.K.1    Pathak, S.2    Geard, C.R.3
  • 53
    • 0037365789 scopus 로고    scopus 로고
    • ATM and related protein kinases: safeguarding genome integrity
    • Shiloh, Y., ATM and related protein kinases: safeguarding genome integrity. Nat. Rev. Cancer 3 (2003), 155–168.
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 155-168
    • Shiloh, Y.1
  • 54
    • 84875423827 scopus 로고    scopus 로고
    • The ATM protein kinase: regulating the cellular response to genotoxic stress, and more
    • Shiloh, Y., Ziv, Y., The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat. Rev. Mol. Cell Biol. 14 (2013), 197–210.
    • (2013) Nat. Rev. Mol. Cell Biol. , vol.14 , pp. 197-210
    • Shiloh, Y.1    Ziv, Y.2
  • 55
    • 1942538492 scopus 로고    scopus 로고
    • ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation
    • Stiff, T., O'Driscoll, M., Rief, N., Iwabuchi, K., Lobrich, M., Jeggo, P.A., ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. Cancer Res. 64 (2004), 2390–2396.
    • (2004) Cancer Res. , vol.64 , pp. 2390-2396
    • Stiff, T.1    O'Driscoll, M.2    Rief, N.3    Iwabuchi, K.4    Lobrich, M.5    Jeggo, P.A.6
  • 56
    • 0034700243 scopus 로고    scopus 로고
    • Mortality rates among carriers of ataxia-telangiectasia mutant alleles
    • Su, Y., Swift, M., Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann. Intern. Med. 133 (2000), 770–778.
    • (2000) Ann. Intern. Med. , vol.133 , pp. 770-778
    • Su, Y.1    Swift, M.2
  • 58
    • 0021096730 scopus 로고
    • Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes
    • Swift, M., Chase, C., Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes. Lancet 1 (1983), 1049–1050.
    • (1983) Lancet , vol.1 , pp. 1049-1050
    • Swift, M.1    Chase, C.2
  • 60
    • 36248966518 scopus 로고    scopus 로고
    • 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., Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131 (2007), 861–872.
    • (2007) Cell , vol.131 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4    Ichisaka, T.5    Tomoda, K.6    Yamanaka, S.7
  • 62
    • 0030051855 scopus 로고    scopus 로고
    • Leukemia and lymphoma in ataxia telangiectasia
    • Taylor, A.M., Metcalfe, J.A., Thick, J., Mak, Y.F., Leukemia and lymphoma in ataxia telangiectasia. Blood 87 (1996), 423–438.
    • (1996) Blood , vol.87 , pp. 423-438
    • Taylor, A.M.1    Metcalfe, J.A.2    Thick, J.3    Mak, Y.F.4
  • 63
    • 84880318361 scopus 로고    scopus 로고
    • A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors
    • Tilgner, K., Neganova, I., Moreno-Gimeno, I., Al-Aama, J.Y., Burks, D., Yung, S., Singhapol, C., Saretzki, G., Evans, J., Gorbunova, V., et al. A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors. Cell Death Differ. 20 (2013), 1089–1100.
    • (2013) Cell Death Differ. , vol.20 , pp. 1089-1100
    • Tilgner, K.1    Neganova, I.2    Moreno-Gimeno, I.3    Al-Aama, J.Y.4    Burks, D.5    Yung, S.6    Singhapol, C.7    Saretzki, G.8    Evans, J.9    Gorbunova, V.10
  • 67
    • 84925012805 scopus 로고    scopus 로고
    • Differentiation of human induced pluripotent stem cells to mature functional Purkinje neurons
    • Wang, S., Wang, B., Pan, N., Fu, L., Wang, C., Song, G., An, J., Liu, Z., Zhu, W., Guan, Y., et al. Differentiation of human induced pluripotent stem cells to mature functional Purkinje neurons. Sci. Rep., 5, 2015, 9232.
    • (2015) Sci. Rep. , vol.5 , pp. 9232
    • Wang, S.1    Wang, B.2    Pan, N.3    Fu, L.4    Wang, C.5    Song, G.6    An, J.7    Liu, Z.8    Zhu, W.9    Guan, Y.10
  • 68
    • 0030565541 scopus 로고    scopus 로고
    • Reduced telomere length in ataxia-telangiectasia fibroblasts
    • Xia, S.J., Shammas, M.A., Shmookler Reis, R.J., Reduced telomere length in ataxia-telangiectasia fibroblasts. Mutat. Res. 364 (1996), 1–11.
    • (1996) Mutat. Res. , vol.364 , pp. 1-11
    • Xia, S.J.1    Shammas, M.A.2    Shmookler Reis, R.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.