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Disease-Specific Induced Pluripotent Stem Cells.
Open accessAbstract
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.
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“The first iPSCs reprogrammed from an individual with DS were reported in 2008 (Park et al., 2008) and multiple lines have been created from multiple different individuals since then.”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Park et al., 2008
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Cites
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
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“In contrast, introducing a set of transcription factors linked to pluripotency can directly reprogram human somatic cells to produce induced pluripotent stem (iPS) cells, a method that has been achieved by several groups worldwide (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007; Yu et al., 2007).”
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
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“In contrast, introducing a set of transcription factors linked to pluripotency can directly reprogram human somatic cells to produce induced pluripotent stem (iPS) cells, a method that has been achieved by several groups worldwide (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007; Yu et al., 2007).”
Reprogramming of human somatic cells to pluripotency with defined factors
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“Following 2 to 3 weeks of culture in hES cell-supporting conditions, compact refractile ES-like colonies emerged among a background of fibroblasts, as previously described (Park et al., 2008a, 2008b).”
InfluentialSelf-citationSite-directed mutagenesis by gene targeting in mouse embryo-derived stem cells
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“…from a carrier of Lesch-Nyhan syndrome using five doxycycline-inducible lentiviral vectors (OCT4, SOX2, KLF4, c-MYC, and NANOG), a strategy that has been used to isolate murine iPS cells (Brambrink et al., 2008; Stadtfeld et al., 2008) but previously had not been attempted with human somatic cells.”
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“…from a carrier of Lesch-Nyhan syndrome using five doxycycline-inducible lentiviral vectors (OCT4, SOX2, KLF4, c-MYC, and NANOG), a strategy that has been used to isolate murine iPS cells (Brambrink et al., 2008; Stadtfeld et al., 2008) but previously had not been attempted with human somatic cells.”
MethodInfluentialSelf-citationNon–cell autonomous effect of glia on motor neurons in an embryonic stem cell–based ALS model
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- Hirschhorn, 1993, Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050–54) unusual for not being missense mutations, Hum. Mutat., 2, 320, 10.1002/humu.1380020415 · DOI
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Items 301–400 of 1,010
Generation of Induced Pluripotent Stem Cells from Human Kidney Mesangial Cells
Song, B., Niclis, J. C., Alikhan, M. A., Sakkal, S., Sylvain, A., Kerr, P. G., Laslett, A. L., Bernard, C. C. A., & Ricardo, S. D. (2011) · Journal of the American Society of Nephrology · doi:10.1681/asn.2010101022 · Cited by 86
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Self-citationPluripotent Stem Cell Models of Human Heart DiseasePreprint
Moretti, A., Laugwitz, K., Dorn, T., Sinnecker, D., & Mummery, C. L. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a014027 · Cited by 91
“The revolutionary discovery of induced pluripotent stem cells (iPSCs), generated by reprogramming somatic cells into an embryonic pluripotent state by the forced expression of a defined set of transcription factors (Takahashi and Yamanaka 2006; Takahashi et al. 2007; Yu et al. 2007; Park et al. 2008), introduced a pot…”
BackgroundSelvaraj, V., Plane, J. M., Williams, A. J., & Deng, W. (2010) · Trends in biotechnology · doi:10.1016/j.tibtech.2010.01.002 · Cited by 83
Wilson, A. A., Ying, L., Liesa, M., Segeritz, C., Mills, J. A., Shen, S. S., Jean, J., Lonza, G. C., Liberti, D. C., Lang, A., et al. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2015.02.021 · Cited by 88
“Recently, the discovery of induced pluripotent stem cells (iPSCs) (Takahashi and Yamanaka, 2006) has made it possible tomodel a variety of genetic diseases in vitro using patient-derived stem cells (Ebert et al., 2009; Park et al., 2008; Rashid et al., 2010).”
BackgroundiPSC-derived β cells model diabetes due to glucokinase deficiency.
Hua, H.-Q., Shang, L.-S., Martinez, H., Freeby, M., Gallagher, M., Ludwig, T., Deng, L.-Y., Greenberg, E., Leduc, C., Chung, W., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67638 · Cited by 93
“Introduction Recent progress in somatic cell reprogramming has allowed the generation of induced pluripotent stem cells (iPSCs) from diabetic subjects (1).”
RetractedModeling Parkinson’s Disease Using Induced Pluripotent Stem Cells
Byers, B., Lee, H. D., & Pera, R. A. R. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0270-y · Cited by 78
Generation of Induced Pluripotent Stem Cells from Human Adipose-Derived Stem Cells Without c-MYC
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Improving homology-directed repair efficiency in human stem cells
Skarnes, W. C., Pellegrino, E., & McDonough, J. A. (2019) · Methods · doi:10.1016/j.ymeth.2019.06.016 · Cited by 109
Therapeutic Translation of iPSCs for Treating Neurological Disease
Yu, D. X., Marchetto, M. C., & Gage, F. H. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.05.018 · Cited by 88
miRNA-375 promotes beta pancreatic differentiation in human induced pluripotent stem (hiPS) cells
Lahmy, R., Soleimani, M., Sanati, M. H., Behmanesh, M., Kouhkan, F., & Mobarra, N. (2014) · Molecular Biology Reports · doi:10.1007/s11033-014-3054-4 · Cited by 91
microRNA-29b is a novel mediator of Sox2 function in the regulation of somatic cell reprogramming
Guo, X., Liu, Q., Wang, G., Zhu, S., Gao, L., Hong, W., Chen, Y., Wu, M., Liu, H., Jiang, C., et al. (2012) · Cell Research · doi:10.1038/cr.2012.180 · Cited by 96
Fujikura, J., Nakao, K., Sone, M., Noguchi, M., Mori, E., Naito, M., Taura, D., Harada‐Shiba, M., Kishimoto, I., Watanabe, A., et al. (2012) · Diabetologia · doi:10.1007/s00125-012-2508-2 · Cited by 92
“More recently, disease-specific iPS cells have been generated from fibroblasts obtained from patients with various diseases [7–14], although not with mitochondrial diseases.”
BackgroundBajpai, V., Mistriotis, P., Loh, Y., Daley, G., & Andreadis, S. (2012) · Cardiovascular Research · doi:10.1093/cvr/cvs253 · Cited by 89
“complex diseases including neurological, haematological, cardiac, and metabolic disorders.(57,58) Others started to evaluate iPSC as a source of cells for regenerative medicine applications, primarily as an alternative source to adult stem cells,(59) which suffer from limited lifespan due to organismal or culture sene…”
BackgroundSelf-citationLu, H., Narayanan, K., Lim, S.-X., Gao, S., Leong, M. F., & Wan, A. C. A. (2011) · Biomaterials · doi:10.1016/j.biomaterials.2011.11.077 · Cited by 95
Ohmine, S., Squillace, K. A., Hartjes, K. A., Deeds, M. C., Armstrong, A. S., Thatava, T., Sakuma, T., Terzic, A., Kudva, Y. C., & Ikeda, Y. (2012) · Aging · doi:10.18632/aging.100428 · Cited by 89
“Diseasespecific iPS derivation has been also reported from young adults with various genetic or degenerative diseases, including generation of iPS cells from type 1 diabetes (T1D) [14, 26].”
BackgroundTulpule, A., Lensch, M., Miller, J. D., Austin, K. M., D'Andrea, A., Schlaeger, T., Shimamura, A., & Daley, G. Q. (2010) · Blood · doi:10.1182/blood-2009-10-246694 · Cited by 89
Self-citationParrotta, E. I., Lucchino, V., Scaramuzzino, L., Scalise, S., & Cuda, G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124354 · Cited by 88
CRISPR-mediated genome editing and human diseases
Cai, L., Fisher, A. L., Huang, H., & Xie, Z. (2016) · Genes & Diseases · doi:10.1016/j.gendis.2016.07.003 · Cited by 83
“The invention of induced pluripotent stem (iPS) cells has greatly advanced translational research, especially with the generation of disease-derived human iPS cells.(28,29) Strategies to reprogram somatic cells keep being updated, and the current”
BackgroundVazin, T., Ball, K. A., Lü, H., Park, H., Ataeijannati, Y., Head-Gordon, T. L., Poo, M., & Schaffer, D. V. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.09.005 · Cited by 94
One-step derivation of cardiomyocytes and mesenchymal stem cells from human pluripotent stem cells.
Wei, H., Tan, G., Manasi, Qiu, S.-H., Kong, G., Yong, P., Koh, C., Ooi, T. H., Lim, S.-Y., Wong, P., et al. (2012) · Stem Cell Research · doi:10.1016/j.scr.2012.04.003 · Cited by 88
Stem Cell Platforms for Regenerative Medicine
Nelson, T. J., Behfar, A., Yamada, S., Martinez-Fernandez, A., & Terzic, A. (2009) · Clinical and Translational Science · doi:10.1111/j.1752-8062.2009.00096.x · Cited by 88
Kudva, Y. C., Ohmine, S., Greder, L. V., Dutton, J. R., Armstrong, A. S., Lamo, J. G. D., Khan, Y. K., Thatava, T., Hasegawa, M., Fusaki, N., et al. (2012) · Stem Cells Translational Medicine · doi:10.5966/sctm.2011-0044 · Cited by 87
Sheridan, S., Surampudi, V., & Rao, R. (2012) · Stem Cells International · doi:10.1155/2012/738910 · Cited by 87
“Other researchers have also found that partially reprogrammed hiPSCs can form teratomas even if they do not meet other criteria for pluripotency, leading many to question the overall significance of the teratoma assay [6].”
The Promise of Stem Cell Research in Pigs and Other Ungulate Species
Telugu, B. P. V. L., Ezashi, T., & Roberts, R. M. (2009) · Stem Cell Reviews and Reports · doi:10.1007/s12015-009-9101-1 · Cited by 83
“A second compound, kenpaullone (KP), which is a selective inhibitor of GSK3B and cyclin B/CDK1 [92], appeared to substitute for KLF4 function [ 92 ].”
BackgroundTolar, J., McGrath, J. A., Xia, L., Riddle, M. J., Lees, C. J., Eide, C. R., Keene, D. R., Liu, L., Osborn, M. J., Lund, T. C., et al. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2013.523 · Cited by 86
“Following the well-established technology for development of iPSC-based disease models (Bilousova et al., 2011; Itoh et al., 2011; Park et al., 2008), we transduced COL7A1 revertant skin keratinocytes with OCT4-, SOX2-, KLF4-, and c-MYC-encoding retroviral vectors.”
MethodCharbord, J., Poydenot, P., Bonnefond, C., Feyeux, M., Casagrande, F., Brinon, B., Francelle, L., Aurégan, G., Guillermier, M., Cailleret, M., et al. (2013) · Stem Cells · doi:10.1002/stem.1430 · Cited by 94
“An et al. [40] have linked the reduced expression of BDNF in HD1-iPS4 derived NSCs (compared with level in WT-NSCs) to the HTT mutation, genetically correcting the CAG expansion (72 CAGs) in HD1-iPS4 clones.”
Influential“Seq-ing” Insights into the Epigenetics of Neuronal Gene Regulation
Telese, F., Gamliel, A., Skowronska‐Krawczyk, D., García-Bassets, I., & Rosenfeld, M. G. (2013) · Neuron · doi:10.1016/j.neuron.2013.01.034 · Cited by 81
Tiscórnia, G., Lorenzo-Vivas, E., Matalonga, L., Berniakovich, I., Barragán, M., Eguizábal, C., Gort, L., Gonzãlez, F., Mellet, C. O., Fernández, J. M. G., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds471 · Cited by 84
“(30) used individual retroviral vectors expressing Oct4, Sox2, Klf4 and c-Myc to generate a number of iPSc lines from fibroblasts of several monogenic diseases, including GD type 1.”
BackgroundEfficient induction of functional neurons from adult human fibroblasts
Pfisterer, U., Wood, J. C., Nihlberg, K., Hällgren, O., Bjermer, L. H., Westergren‐Thorsson, G., Lindvall, O., & Parmar, M. (2011) · Cell Cycle · doi:10.4161/cc.10.19.17584 · Cited by 79
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies
Seleman, M., Hoyos-Bachiloglu, R., Geha, R., & Chou, J. (2017) · Frontiers in Immunology · doi:10.3389/fimmu.2017.00847 · Cited by 84
Noormohammadi, A., Khodakarami, A., Gutiérrez-García, R., Lee, H. J., Koyuncu, S., König, T., Schindler, C., Sáez, I., Fatima, A., Dieterich, C., et al. (2016) · Nature Communications · doi:10.1038/ncomms13649 · Cited by 86
Chang, Y.-C., Chang, W., Hung, K.-H., Yang, D.-M., Cheng, Y., Liao, Y.-W., Woung, L., Tsai, C.-Y., Hsu, C., Lin, T., et al. (2014) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2014.00191 · Cited by 81
“Several studies had been made to generate iPSCs from patients with various diseases providing new opportunities for regenerative medicine and in vitro disease modeling (Dimos et al., 2008; Park et al., 2008; Maehr et al., 2009).”
BackgroundInduced pluripotent stem cells for modelling human diseases
Unternaehrer, J., & Daley, G. Q. (2011) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2011.0017 · Cited by 81
Self-citationMedvedev, S. P., Grigor’eva, E. V., Shevchenko, A. I., Malakhova, A. A., Dementyeva, E. V., Shilov, A. A., Pokushalov, E. A., Zaidman, A. M., Aleksandrova, M. A., Plotnikov, E. Y., et al. (2010) · Stem Cells and Development · doi:10.1089/scd.2010.0249 · Cited by 86
Progress towards generation of human haematopoietic stem cells
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New lessons learned from disease modeling with induced pluripotent stem cells
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Self-citationTissue engineering and the use of stem/progenitor cells for airway epithelium repair.
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Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells
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“Human iPSC HD-iPS-4 (GM23225) and HD2 (72) Fibroblasts: GM04281 Retroviral (OSKM) No [83] [24, 38, 42, 44, 47, 84]”
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“Currently, RPE transplantation is also considered a superior treatment option for patients with AMD, because the primary lesion in this disease occurs in the RPE (39).”
BackgroundInfluentialTulpule, A., Kelley, J. M., Lensch, M., McPherson, J., Park, I.-H., Hartung, O., Nakamura, T., Schlaeger, T., Shimamura, A., & Daley, G. Q. (2013) · Cell Stem Cell · doi:10.1016/j.stem.2013.04.002 · Cited by 81
“In addition, we reprogrammed fibroblast cell lines from two patients with SDS into iPSCs (SDS-iPSC-1 and SDSiPSC-2; Park et al., 2008).”
MethodSelf-citationThe challenge of immunogenicity in the quest for induced pluripotency
Fairchild, P. J. (2010) · Nature reviews. Immunology · doi:10.1038/nri2878 · Cited by 79
“Indeed, this strategy has been so successful that disease-specific iPSC lines are now available for a wide range of diseases, including Duchenne muscular dystroph”
BackgroundObtaining Consent for Future Research with Induced Pluripotent Cells: Opportunities and Challenges
Aalto-Setälä, K., Conklin, B., & Lo, B. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000042 · Cited by 81
“Thus, many new iPS cell lines will be created from newly donated biological materials [8].”
BackgroundSherman, S. P., & Bang, A. G. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031906 · Cited by 81
“…produce disease-relevant models for drug discovery. hiPSCs can be generated by reprogramming readily available cells including those from skin and blood, enabling derivation of lines representing numerous genotypes and disease phenotypes (Park et al., 2008; Takahashi et al., 2007; Yu et al., 2007).”
Functional Maturation of Human Stem Cell-Derived Neurons in Long-Term Cultures
Lam, R. S., Töpfer, F. M., Wood, P. G., Busskamp, V., & Bamberg, E. (2017) · PLoS ONE · doi:10.1371/journal.pone.0169506 · Cited by 82
Intrinsic cell memory reinforces myogenic commitment of pericyte‐derived iPSCs
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Reprogramming with defined factors: from induced pluripotency to induced transdifferentiation
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Variability in the generation of induced pluripotent stem cells: Importance for disease modeling
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MECP2 Isoform-Specific Vectors with Regulated Expression for Rett Syndrome Gene Therapy
Rastegar, M., Hotta, A., Pasceri, P., Makarem, M., Cheung, A. Y. L., Elliott, S., Park, K. J., Adachi, M., Jones, F. S., Clarke, I. D., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006810 · Cited by 79
“now permit generation of patient-specific iPS cells”
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Promising New Sources for Pluripotent Stem Cells
Leeb, C., Jurga, M., McGUCKIN, C. P., Moriggl, R., & Kenner, L. (2009) · Stem Cell Reviews and Reports · doi:10.1007/s12015-009-9102-0 · Cited by 67
“Park and colleagues took a similar approach to derive iPS cells from patients with a variety of genetic diseases [38].”
BackgroundStem cells: roadmap to the clinic.
Daley, G. (2010) · Journal of Clinical Investigation · doi:10.1172/jci41801 · Cited by 79
Self-citationNirmalanandhan, V., & Sittampalam, G. (2009) · Journal of biomolecular screening · doi:10.1177/1087057109336591 · Cited by 79
“In this article, Park et al.28 describe the generation of iPS cell lines from patients with Mendelian, complex inherited diseases such as juvenile onset type 1 diabetes, Huntington disease, Parkinson disease, Becker muscular dystrophy, Gaucher disease, and adenosine deaminase deficiency-related severe immune deficienc…”
BackgroundBaker, M. (2009) · Nature · doi:10.1038/458962a · Cited by 52
Davidson, A. J. (2008) · StemBook · doi:10.3824/stembook.1.34.1 · Cited by 73
“The recent discovery that somatic cells can be converted into ES-like cells, called induced pluripotent stem cells (iPS) now makes it relatively easy to create a multitude of disease-specific iPS lines (Park et al., 2008; Yamanaka, 2008).”
BackgroundNon-muscle myosin II regulates survival threshold of pluripotent stem cells
Walker, A., Su, H., Conti, M. A., Harb, N., Adelstein, R. S., & Sato, N. (2010) · Nature Communications · doi:10.1038/ncomms1074 · Cited by 87
Murray, A., Letourneau, A., Canzonetta, C., Stathaki, E., Gimelli, S., Sloan-Bena, F., Abrehart, R., Goh, P., Lim, S., Baldo, C., et al. (2015) · Stem Cells · doi:10.1002/stem.1968 · Cited by 78
Endodermal differentiation of human pluripotent stem cells to insulin-producing cells in 3D culture
Takeuchi, H., Nakatsuji, N., & Suemori, H. (2014) · Scientific Reports · doi:10.1038/srep04488 · Cited by 87
Functional Impacts of NRXN1 Knockdown on Neurodevelopment in Stem Cell Models
Zeng, L., Zhang, P., Shi, L., Yamamoto, V. N., Lu, W., & Wang, K. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059685 · Cited by 76
“For example, in recent years, hiPSCs have already been used for studying Parkinson’s disease [40], Rett syndrome [41], schizophrenia [42], fragile X mental retardation syndrome [43], Timothy syndrome [44], and others.”
MethodLee, K. S., Zhou, W.-B., Scott-McKean, J. J., Emmerling, K., Cai, G.-Y., Krah, D., Costa, A. C. S., Freed, C., & Levin, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0053010 · Cited by 78
“The creation of induced pluripotent stem (iPS) cells [19,20] may advance our understanding of multiple diseases and serve as a platform for therapeutic interventions [21–23].”
BackgroundInduced pluripotent stem cells and personalized medicine: current progress and future perspectives
Chun, Y. S., Byun, K., & Lee, B. (2011) · Anatomy & Cell Biology · doi:10.5115/acb.2011.44.4.245 · Cited by 92
iPSC technology‐based regenerative therapy for diabetes
Kondo, Y., Toyoda, T., Inagaki, N., & Osafune, K. (2017) · Journal of Diabetes Investigation · doi:10.1111/jdi.12702 · Cited by 84
A Transcriptional Roadmap to the Induction of Pluripotency in Somatic Cells
Wang, Y., Mah, N., Prigione, A., Wolfrum, K., Andrade-Navarro, M. A., & Adjaye, J. (2010) · Stem Cell Reviews and Reports · doi:10.1007/s12015-010-9137-2 · Cited by 76
Han, F., Wang, W., Chen, B.-X., Chen, C., Li, S., Lu, X.-J., Duan, J., Zhang, Y., Zhang, Y., Guo, W., et al. (2015) · Cytotherapy · doi:10.1016/j.jcyt.2015.02.001 · Cited by 76
Tiemann, U., Sgodda, M., Warlich, E., Ballmaier, M., Schöler, H., Schambach, A., & Cantz, T. (2011) · Cytometry Part A · doi:10.1002/cyto.a.21072 · Cited by 76
“disease-specific induced pluripotent stem cells (13).”
Stem Cell Models of Cardiac Development and Disease
Musunuru, K., Domian, I. J., & Chien, K. R. (2010) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100109-103948 · Cited by 71
“This has successfully been done for a variety of human diseases, including type 1 diabetes mellitus, muscular dystrophies, Parkinson disease, Huntington disease, and Down syndrome (Park et al. 2008a). iPS cell lines offer several advantages over recombinant human ES lines.”
BackgroundMitochondria: Determinants of Stem Cell Fate?
Parker, G. C., Acsádi, G., & Brenner, C. A. (2009) · Stem Cells and Development · doi:10.1089/scd.2009.1806.edi · Cited by 69
PICALM Rescues Endocytic Defects Caused by the Alzheimer’s Disease Risk Factor APOE4
Narayan, P., Sienski, G., Bonner, J. M., Lin, Y.-T., Seo, J., Baru, V., Haque, A., Milo, B., Akay, L. A., Graziosi, A., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108224 · Cited by 75
“Induced pluripotent stem cells (iPSCs)-derived cells have been used to recapitulate many molecular aspects of various human diseases (Devine et al., 2011; Park et al., 2008; The HD iPSC Consortium, 2012) including AD-relevant consequences of APOE4 (Lin et al.”
BackgroundVitamin C alleviates aging defects in a stem cell model for Werner syndrome
Li, Y., Zhang, W., Chang, L., Han, Y., Sun, L., Gong, X., Tang, H., Liu, Z., Deng, H., Ye, Y., et al. (2016) · Protein & Cell · doi:10.1007/s13238-016-0278-1 · Cited by 79
“Since 2011, we and others have shown the capacity of hPSC disease models in recapitulating disease defects in various human genetic disorders including Hutchinson-Gliford progeria syndrome (HGPS), Parkinson's diseases, Fanconi Anemia, xeroderma pigmentosum, glioblastoma, and WS (Cheung et al., 2014; Duan et al., 2015;…”
BackgroundKim, C. (2014) · Blood Research · doi:10.5045/br.2014.49.1.7 · Cited by 74
“Success of blood lineage differentiation from hES/hiPSC Hematopoietic stem cell [51, 52, 58] Erythrocyte [54] Mature B [55, 62] Mature T [53] Natural killer cell [56, 57] Macrophage/dendritic cell [59] Success of iPSC generation from blood lineage Hematopoietic stem cell [41, 63] Mature B [12] Mature T [11, 65] Succes…”
BackgroundGeneration of pancreatic insulin-producing cells from rhesus monkey induced pluripotent stem cells
Zhu, F., Zhang, P. B., Zhang, D. H., Sui, X. Y., Yin, M., Xiang, T. T., Shi, Y., Ding, M. X., & Deng, H. (2011) · Diabetologia · doi:10.1007/s00125-011-2246-x · Cited by 70
“Disease-specific iPSCs have been established from individual patients [5–9], and differentiation of human iPSCs into lineage-specific cells has been achieved [10–13].”
BackgroundMcneish, J., Roach, M. L., Hambor, J., Mather, R., Weibley, L., Lazzaro, J., Gazard, J., Schwarz, J. A., Volkmann, R., Machacek, D., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.098814 · Cited by 74
Gene Targeting in a HUES Line of Human Embryonic Stem Cells Via Electroporation
Ruby, K. M., & Zheng, B. (2009) · Stem Cells · doi:10.1002/stem.73 · Cited by 70
Lu, H.-E., Yang, Y.-C., Chen, S.-M., Su, H.-L., Huang, P.-C., Tsai, M.-S., Wang, T.-H., Tseng, C.-P., & Hwang, S.-M. (2013) · Experimental Cell Research · doi:10.1016/j.yexcr.2012.09.017 · Cited by 74
Jiwlawat, N., Lynch, E., Jeffrey, J., van Dyke, J. V., & Suzuki, M. (2018) · Stem Cells International · doi:10.1155/2018/6241681 · Cited by 73
“Particularly, iPSC technology allows creation of patient-derived stem cells, which can simulate pathophysiological conditions in vitro [2].”
BackgroundKang, S., Chen, X., Gong, S., Yu, P., Yau, S., Su, Z., Zhou, L., Yu, J., Pan, G., & Shi, L. (2017) · Scientific Reports · doi:10.1038/s41598-017-12452-x · Cited by 89
Chang, C., Chen, S.-M., Lu, H.-E., Lai, S.-M., Lai, P., Shen, P.-W., Chen, P.-Y., Shen, C.-I., Harn, H., Lin, S., et al. (2015) · Scientific Reports · doi:10.1038/srep08744 · Cited by 79
Liu, J.-Y., Peng, H., Gopinath, S., Tian, J., & Andreadis, S. (2010) · Tissue Engineering. Part A · doi:10.1089/ten.tea.2009.0833 · Cited by 73
Assessing the Value of Autologous and Allogeneic Cells for Regenerative Medicine
Mason, C., & Dunnill, P. (2009) · Regenerative Medicine · doi:10.2217/rme.09.64 · Cited by 80
Can cellular models revolutionize drug discovery in Parkinson's disease?
Schüle, B., Pera, R. A. R., & Langston, J. W. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2009.08.014 · Cited by 64
Generation and characterization of human induced pluripotent stem cells.
Ohnuki, M., Takahashi, K., & Yamanaka, S. (2009) · Current protocols in stem cell biology · doi:10.1002/9780470151808.sc04a02s9 · Cited by 73
iPSCs from cancer cells: challenges and opportunities.
Ramos-Mejía, V., Fraga, M., & Menéndez, P. (2012) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2012.04.001 · Cited by 72
Derivation of Huntington's Disease-Affected Human Embryonic Stem Cell Lines
Bradley, C. K., Scott, H. A., Chami, O., Peura, T., Dumevska, B., Schmidt, U., & Stojanov, T. (2011) · Stem Cells and Development · doi:10.1089/scd.2010.0120 · Cited by 72
The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte, S., Willfors, C., Berggren, S., Norberg, J., Poltrago, L., Mevel, K., Coco, C., Fransson, P., Borg, J., Sitnikov, R., et al. (2014) · Twin Research and Human Genetics · doi:10.1017/thg.2014.12 · Cited by 71
“Cellular models built on patient-specific iPS cells have successfully shown disease phenotypes, also when modeling psychiatric disorders (Christian et al., 2012; Park et al., 2008).”
BackgroundImage-based high-content screening in drug discovery
Lin, S., Schorpp, K., Rothenaigner, I., & Hadian, K. (2020) · Drug Discovery Today · doi:10.1016/j.drudis.2020.06.001 · Cited by 118
Therapeutic Potential of Human Induced Pluripotent Stem Cells in Experimental Stroke
Chang, D.-J., Lee, N., Park, I., Choi, C., Jeon, I., Kwon, J., Oh, S.-H., Shin, D. A., Tae, J., Lee, D. R., et al. (2013) · Cell Transplantation · doi:10.3727/096368912x657314 · Cited by 80
“We previously established the 551-8 hiPSC line (26), but its neuronal differentiation has not been studied extensively.”
BackgroundSelf-citationA Cyclic AMP Analog, 8-Br-cAMP, Enhances the Induction of Pluripotency in Human Fibroblast Cells
Wang, Y., & Adjaye, J. (2010) · Stem Cell Reviews and Reports · doi:10.1007/s12015-010-9209-3 · Cited by 62
“Furthermore, iPS cells possess enormous potential for basic research on developmental biology, modeling of diseases, toxicology, drug screening and cell replacement therapies [5–17].”
BackgroundPluripotent stem cell derived hepatocyte like cells and their potential in toxicity screening.
Greenhough, S., Medine, C. N., & Hay, D. C. (2010) · Toxicology · doi:10.1016/j.tox.2010.07.012 · Cited by 71
Kim, Y.-J., & Broxmeyer, H. (2010) · Critical reviews in oncology/hematology · doi:10.1016/j.critrevonc.2010.07.009 · Cited by 71
“Recently, pluripotency of MSC was further extended by reprogramming into embryonic stem cell-like, induced pluripotent stem cells (iPS) [178].”
BackgroundKim, H. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2010.08.006 · Cited by 71
“Fascinatingly, diseasespecific IPS cells, including spinal muscular atrophy (SMA), Huntington's disease, lateral sclerosis and muscular dystrophy, have also been successfully generated [151,152].”
BackgroundComparing ESC and iPSC—Based Models for Human Genetic Disorders
Halevy, T., & Urbach, A. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3041146 · Cited by 78
“Therefore, since the first derivation of human iPSCs from normal donors [67–69] and from patients [11], this method was considered by many to be the optimal methodology for disease modeling by human pluripotent cells (due to scientific reasons as well as other reasons).”
BackgroundLowenthal, J., Lipnick, S., Rao, M. S., & Hull, S. C. (2012) · Stem Cells Translational Medicine · doi:10.5966/sctm.2012-0029 · Cited by 71
Reprogramming of Trophoblast Stem Cells into Pluripotent Stem Cells by Oct4
Wu, T., Wang, H., He, J., Kang, L., Jiang, Y.-H., Liu, J., Zhang, Y., Kou, Z.-H., Liu, L., Zhang, X.-H., et al. (2011) · Stem Cells · doi:10.1002/stem.617 · Cited by 70
Alternative induced pluripotent stem cell characterization criteria for in vitro applications.
Ellis, J., Bruneau, B. G., Keller, G., Lemischka, I., Nagy, A., Rossant, J., Srivastava, D., Zandstra, P., & Stanford, W. (2009) · Cell Stem Cell · doi:10.1016/j.stem.2009.02.010 · Cited by 70
“Human iPSC lines appear to be less efficient at forming teratomas and require more cells in comparison to hESCs (Park et al., 2008), suggesting that the teratoma assay employs many recipient mice to define the competence of perhaps a subset of contributing iPSCs.”
ResultNaia, L., Carmo, C., Campesan, S., Fão, L., Cotton, V. E., Valero, J., Lopes, C., Rosenstock, T. R., Giorgini, F., & Rego, A. C. (2020) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2020.11.031 · Cited by 74
Metadata
- Authors
- Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q.
- Affiliations
- Boston Children's Hospital (US)
- Harvard University (US)
- University of Washington (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Daley, George Q.
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2008-09
- Volume
- 134
- Issue
- 5
- Pages
- 877-886
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC2633781
- OpenAlex
- W2157645703
- Cited by
- 2,196
- References
- 34
- Citations by year
- 2026: 20 · 2025: 32 · 2024: 38 · 2023: 51 · 2022: 62 · 2021: 75 · 2020: 89 · 2019: 73 · 2018: 71 · 2017: 108 · 2016: 125 · 2015: 144 · 2014: 139 · 2013: 204 · 2012: 272
- FWCI
- 95.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (DP1OD000256)
- National Heart, Lung, and Blood Institute (R01HL079582)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK059279)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Mesenchymal stem cell research
- Keywords
- induced pluripotent stem cells, genetic disorders, Mendelian inheritance, multifactorial inheritance, ADA-SCID, Duchenne muscular dystrophy, Becker muscular dystrophy, Parkinson's disease, Huntington's disease, Down syndrome, Lesch-Nyhan syndrome, in vitro disease model, drug development
- MeSH terms
- Bone Marrow Cells, Cell Line, Fibroblasts, Humans, Karyotyping, Mutation, Genetic Diseases, Inborn, Pluripotent Stem Cells, Mesenchymal Stem Cells
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