Human disease modeling with induced pluripotent stem cells

Current Opinion in Genetics and Development

Volumn 22, Issue 5, 2012, Pages 509-516

  Trounson, Alan ^a   Shepard, Kelly A ^a   DeWitt, Natalie D ^a  

^a California Institute for Regenerative Medicine (CIRM)   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; BETA SECRETASE; CALSEQUESTRIN; CALSEQUESTRIN 2; PARKIN; POLYGLUTAMINE; PRESENILIN; RYANODINE RECEPTOR 2; TAR DNA BINDING PROTEIN; TROPONIN T; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ALPHA SYNUCLEIN GENE; ALZHEIMER DISEASE; AMYLOID PLAQUE; ANEUPLOIDY; APP GENE; ATXN3 GENE; AUTISM; CASQ2 GENE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CELL DIFFERENTIATION; CELL FUNCTION; CELL LINEAGE; CELL TYPE; CHROMOSOME DUPLICATION; CONGESTIVE CARDIOMYOPATHY; CSF2RA GENE; EMMANUEL SYNDROME; ENVIRONMENTAL FACTOR; FRAGILE X SYNDROME; FRONTOTEMPORAL DEMENTIA; FXMRP GENE; GENE; GENE EXPRESSION; GENETIC DISORDER; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HEART DISEASE; HEPATITIS C; HEREDITY; HOST PATHOGEN INTERACTION; HUMAN; INFECTION; LRRK2 GENE; MACHADO JOSEPH DISEASE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR BIOLOGY; NEUROLOGIC DISEASE; NUCLEAR REPROGRAMMING; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; PSN GENE; REVIEW; RYR2 GENE; TIMOTHY SYNDROME; TNNT2 GENE; TRISOMY 13; TURNER SYNDROME; WARKANY SYNDROME 2;

ANEUPLOIDY; ANIMALS; CELL DIFFERENTIATION; DISEASE MODELS, ANIMAL; DISEASE SUSCEPTIBILITY; HEART DISEASES; HUMANS; INDUCED PLURIPOTENT STEM CELLS; NERVOUS SYSTEM DISEASES; NUCLEAR REPROGRAMMING;

EID: 84868214949     PISSN: 0959437X     EISSN: 18790380     Source Type: Journal    
DOI: 10.1016/j.gde.2012.07.004     Document Type: Review

References (58)

1. Davis R.L., Weintraub H., Lassar A.B. Expression of a single transfected cDNA converts fibroblasts to myoblasts. Cell 1987, 51:987-1000.
2. 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 2007, 131:861-872.
3. Wu S.M., Hochedlinger K. Harnessing the potential of induced pluripotent stem cells for regenerative medicine. Nat. Cell Biol. 2011, 13:497-505.
4. Grskovic M., Javaherian A., Strulovici B., Daley G.Q. Induced pluripotent stem cells - opportunities for disease modelling and drug discovery. Nat. Rev. Drug Discov. 2011, 10:915-929.
5. Cherry A.B., Daley G.Q. Reprogramming cellular identity for regenerative medicine. Cell 2012, 148:1110-1122.
6. Patel J.P., Gonen M., Figueroa M.E., Fernandez H., Sun Z., Racevskis J., Van Vlierberghe P., Dolgalev I., Thomas S., Aminova O., et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N. Engl. J. Med. 2012, 366:1079-1089.
7. Devine M.J., Ryten M., Vodicka P., Thomson A.J., Burdon T., Houlden H., Cavaleri F., Nagano M., Drummond N.J., Taanman J.W., et al. Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. Nat. Commun. 2011, 2.
8. Byers B., Cord B., Nguyen H.N., Schule B., Fenno L., Lee P.C., Deisseroth K., Langston J.W., Pera R.R., Palmer T.D. SNCA triplication Parkinson's patient's iPSC-derived dA neurons accumulate alpha-synuclein and are susceptible to oxidative stress. PLoS ONE 2011, 6:e26159.
9. Jiang H., Ren Y., Yuen E.Y., Zhong P., Ghaedi M., Hu Z., Azabdaftari G., Nakaso K., Yan Z., Feng J. Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells. Nat. Commun. 2012, 3.
10. Sanchez-Danes A., Richaud-Patin Y., Carballo-Carbajal I., Jimenez-Delgado S., Caig C., Mora S., Di Guglielmo C., Ezquerra M., Patel B., Giralt A., et al. Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol. Med. 2012.
11. Israel M.A., Yuan S.H., Bardy C., Reyna S.M., Mu Y., Herrera C., Hefferan M.P., Van Gorp S., Nazor K.L., Boscolo F.S., et al. Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature 2012.
12. Yagi T., Ito D., Okada Y., Akamatsu W., Nihei Y., Yoshizaki T., Yamanaka S., Okano H., Suzuki N. Modeling familial Alzheimer's disease with induced pluripotent stem cells. Hum. Mol. Genet. 2011, 20:4530-4539.
13. Koch P., Tamboli I.Y., Mertens J., Wunderlich P., Ladewig J., Stuber K., Esselmann H., Wiltfang J., Brustle O., Walter J. Presenilin-1 l166p mutant human pluripotent stem cell-derived neurons exhibit partial loss of gamma-secretase activity in endogenous amyloid-beta generation. Am. J. Pathol. 2012.
14. Yahata N., Asai M., Kitaoka S., Takahashi K., Asaka I., Hioki H., Kaneko T., Maruyama K., Saido T.C., Nakahata T., et al. Anti-Aβ drug screening platform using human iPS cell-derived neurons for the treatment of Alzheimer's disease. PLoS ONE 2011, 6:e25788.
15. Shi Y., Kirwan P., Smith J., Maclean G., Orkin S.H., Livesey F.J. A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci. Transl. Med. 2012, 4. 124ra129.
16. Koch P., Breuer P., Peitz M., Jungverdorben J., Kesavan J., Poppe D., Doerr J., Ladewig J., Mertens J., Tuting T., et al. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 2011, 480:543-546.
17. Dimos J.T., Rodolfa K.T., Niakan K.K., Weisenthal L.M., Mitsumoto H., Chung W., Croft G.F., Saphier G., Leibel R., Goland R., et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 2008, 321:1218-1221.
18. Bilican B., Serio A., Barmada S.J., Nishimura A.L., Sullivan G.J., Carrasco M., Phatnani H.P., Puddifoot C.A., Story D., Fletcher J., et al. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proc. Natl. Acad. Sci. U. S. A. 2012.
19. Sheridan S.D., Theriault K.M., Reis S.A., Zhou F., Madison J.M., Daheron L., Loring J.F., Haggarty S.J. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of Fragile X syndrome. PLoS ONE 2011, 6:e26203.
20. Pasca S.P., Portmann T., Voineagu I., Yazawa M., Shcheglovitov A., Pasca A.M., Cord B., Palmer T.D., Chikahisa S., Nishino S., et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat. Med. 2011, 17:1657-1662.
21. Yazawa M., Hsueh B., Jia X., Pasca A.M., Bernstein J.A., Hallmayer J., Dolmetsch R.E. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 2011, 471:230-234.
22. Fatima A., Xu G., Shao K., Papadopoulos S., Lehmann M., Arnaiz-Cot J.J., Rosa A.O., Nguemo F., Matzkies M., Dittmann S., et al. In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cell. Physiol. Biochem. 2011, 28:579-592.
23. Sun N., Yazawa M., Liu J., Han L., Sanchez-Freire V., Abilez O.J., Navarrete E.G., Hu S., Wang L., Lee A., et al. Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci. Transl. Med. 2012, 4:130ra147.
24. Huang H.P., Chen P.H., Hwu W.L., Chuang C.Y., Chien Y.H., Stone L., Chien C.L., Li L.T., Chiang S.C., Chen H.F., et al. Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. Hum. Mol. Genet. 2011, 20:4851-4864.
25. Li W., Wang X., Fan W., Zhao P., Chan Y.C., Chen S., Zhang S., Guo X., Zhang Y., Li Y., et al. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes. Hum. Mol. Genet. 2012, 21:32-45.
26. Yoshida T., Takayama K., Kondoh M., Sakurai F., Tani H., Sakamoto N., Matsuura Y., Mizuguchi H., Yagi K. Use of human hepatocyte-like cells derived from induced pluripotent stem cells as a model for hepatocytes in hepatitis c virus infection. Biochem. Biophys. Res. Commun. 2011, 416:119-124.
27. Schwartz R.E., Trehan K., Andrus L., Sheahan T.P., Ploss A., Duncan S.A., Rice C.M., Bhatia S.N. Modeling hepatitis c virus infection using human induced pluripotent stem cells. Proc. Natl. Acad. Sci. U. S. A. 2012.
28. Wu X., Robotham J.M., Lee E., Dalton S., Kneteman N.M., Gilbert D.M., Tang H. Productive hepatitis c virus infection of stem cell-derived hepatocytes reveals a critical transition to viral permissiveness during differentiation. PLoS Pathog. 2012, 8:e1002617.
29. Yu J., Vodyanik M.A., Smuga-Otto K., Antosiewicz-Bourget J., Frane J.L., Tian S., Nie J., Jonsdottir G.A., Ruotti V., Stewart R., et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 2007, 318:1917-1920.
30. Fusaki N., Ban H., Nishiyama A., Saeki K., Hasegawa M. Efficient induction of transgene-free human pluripotent stem cells using a vector based on sendai virus, an RNA virus that does not integrate into the host genome. Proc. Jpn. Acad. Ser. B: Phys. Biol. Sci. 2009, 85:348-362.
31. Yu J., Chau K.F., Vodyanik M.A., Jiang J., Jiang Y. Efficient feeder-free episomal reprogramming with small molecules. PLoS ONE 2011, 6:e17557.
32. Zhu S., Li W., Zhou H., Wei W., Ambasudhan R., Lin T., Kim J., Zhang K., Ding S. Reprogramming of human primary somatic cells by OCT4 and chemical compounds. Cell Stem Cell 2010, 7:651-655.
33. Gore A., Li Z., Fung H.L., Young J.E., Agarwal S., Antosiewicz-Bourget J., Canto I., Giorgetti A., Israel M.A., Kiskinis E., et al. Somatic coding mutations in human induced pluripotent stem cells. Nature 2011, 471:63-67.
34. Laurent L.C., Ulitsky I., Slavin I., Tran H., Schork A., Morey R., Lynch C., Harness J.V., Lee S., Barrero M.J., et al. Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture. Cell Stem Cell 2011, 8:106-118.
35. Lister R., Pelizzola M., Kida Y.S., Hawkins R.D., Nery J.R., Hon G., Antosiewicz-Bourget J., O'Malley R., Castanon R., Klugman S., et al. Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells. Nature 2011, 471:68-73.
36. Marchetto M.C., Yeo G.W., Kainohana O., Marsala M., Gage F.H., Muotri A.R. Transcriptional signature and memory retention of human-induced pluripotent stem cells. PloS ONE 2009, 4:e7076.
37. Nazor K., Altun G., Lynch C., Tran H., Harness J.V., Slavin I., Garitaonandia I., Müller F., Wang Y., Boscolo F., et al. Recurrent variations in DNA methylation in human pluripotent stem cells and their differentiated derivatives. Cell Stem Cell 2012, 10:620-634.
38. Mekhoubad S., Bock C., de Boer A.S., Kiskinis E., Meissner A., Eggan K. Erosion of dosage compensation impacts human iPSC disease modeling. Cell Stem Cell 2012, 10:595-609.
39. Ohi Y., Qin H., Hong C., Blouin L., Polo J.M., Guo T., Qi Z., Downey S.L., Manos P.D., Rossi D.J., et al. Incomplete DNA methylation underlies a transcriptional memory of somatic cells in human iPS cells. Nat. Cell Biol. 2011, 13:541-549.
40. Bock C., Kiskinis E., Verstappen G., Gu H., Boulting G., Smith Z.D., Ziller M., Croft G.F., Amoroso M.W., Oakley D.H., et al. Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell 2011, 144:439-452.
41. Young M.A., Larson D.E., Sun C.W., George D.R., Ding L., Miller C.A., Lin L., Pawlik K.M., Chen K., Fan X., et al. Background mutations in parental cells account for most of the genetic heterogeneity of induced pluripotent stem cells. Cell Stem Cell 2012.
42. Li H., Zhou H., Wang D., Qiu J., Zhou Y., Li X., Rosenfeld M.G., Ding S., Fu X.D. Versatile pathway-centric approach based on high-throughput sequencing to anticancer drug discovery. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:4609-4614.
43. Cohen J.D., Babiarz J.E., Abrams R.M., Guo L., Kameoka S., Chiao E., Taunton J., Kolaja K.L. Use of human stem cell derived cardiomyocytes to examine sunitinib mediated cardiotoxicity and electrophysiological alterations. Toxicol. Appl. Pharmacol. 2011, 257:74-83.
44. Jiang Y., Cowley S.A., Siler U., Melguizo D., Tilgner K., Browne C., Dewilton A., Przyborski S., Saretzki G., James W.S., et al. Derivation and functional analysis of patient specific induced pluripotent stem cells as an in vitro model of chronic granulomatous disease. Stem Cells 2012.
45. Novak A., Barad L., Zeevi-Levin N., Shick R., Shtreichman R., Lorber A., Itskovitz-Eldor J., Binah O. Cardiomyocytes generated from CPVT (D307H) patients are arrhythmogenic in response to beta-adrenergic stimulation. J. Cell Mol. Med. 2011.
46. Jung C.B., Moretti A., Mederos Y.S.M., Iop L., Storch U., Bellin M., Dorn T., Ruppenthal S., Pfeiffer S., Goedel A., et al. Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol. Med. 2011.
47. Camnasio S., Carri A.D., Lombardo A., Grad I., Mariotti C., Castucci A., Rozell B., Riso P.L., Castiglioni V., Zuccato C., et al. The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity. Neurobiol. Dis. 2012, 46:41-51.
48. Mastrangelo L., Kim J.E., Miyanohara A., Kang T.H., Friedmann T. Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:3377-3382.
49. Quarto N., Leonard B., Li S., Marchand M., Anderson E., Behr B., Francke U., Reijo-Pera R., Chiao E., Longaker M.T. Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:215-220.
50. Fujikura J., Nakao K., Sone M., Noguchi M., Mori E., Naito M., Taura D., Harada-Shiba M., Kishimoto I., Watanabe A., et al. Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation. Diabetologia 2012.
51. Song B., Sun G., Herszfeld D., Sylvain A., Campanale N.V., Hirst C.E., Caine S., Parkington H.C., Tonta M.A., Coleman H.A., et al. Neural differentiation of patient specific iPS cells as a novel approach to study the pathophysiology of multiple sclerosis. Stem Cell Res. 2012, 8:259-273.
52. Ananiev G., Williams E.C., Li H., Chang Q. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS One 2011, 6:e25255.
53. Chang T., Zheng W., Tsark W., Bates S., Huang H., Lin R.J., Yee J.K. Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. Stem Cells 2011, 29:2090-2093.
54. Qiu X., Yang J., Liu T., Jiang Y., Le Q., Lu Y. Efficient generation of lens progenitor cells from cataract patient-specific induced pluripotent stem cells. PLoS One 2012, 7:e32612.
55. Maehr R., Chen S., Snitow M., Ludwig T., Yagasaki L., Goland R., Leibel R.L., Melton D.A. Generation of pluripotent stem cells from patients with type 1 diabetes. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:15768-15773.
56. Ohmine S., Squillace K.A., Hartjes K.A., Deeds M.C., Armstrong A.S., Thatava T., Sakuma T., Terzic A., Kudva Y., Ikeda Y. Reprogrammed keratinocytes from elderly type 2 diabetes patients suppress senescence genes to acquire induced pluripotency. Aging 2012, 4:60-73.
57. Brennand K.J., Simone A., Jou J., Gelboin-Burkhart C., Tran N., Sangar S., Li Y., Mu Y., Chen G., Yu D., et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature 2011, 473:221-225.
58. Somers A., Jean J.C., Sommer C.A., Omari A., Ford C.C., Mills J.A., Ying L., Sommer A.G., Jean J.M., Smith B.W., et al. Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells 2010, 28:1728-1740.