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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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Citations
Cites
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. (2007) · Cell · doi:10.1016/s0093-3619(08)70915-8 · Cited by 19,664 · cited 2×
“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
Park, I.-H., Zhao, R., West, J. A., Yabuuchi, A., Huo, H., Ince, T. A., Lerou, P. H., Lensch, M. W., & Daley, G. Q. (2008) · Nature · doi:10.1038/nature06534 · Cited by 2,436 · cited 12×
“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
Thomas, K. R., & Capecchi, M. R. (1987) · Cell · doi:10.1016/0092-8674(87)90646-5 · Cited by 2,355 · cited 1×
“Strategies for inducing specific mutation or gene repair by homologous recombination were first established for the HPRT locus (Doetschman et al., 1987, 1988; Thomas and Capecchi, 1987).”
Murry, C. E., & Keller, G. M. (2008) · Cell · doi:10.1016/j.cell.2008.02.008 · Cited by 1,760 · cited 1×
“Human embryonic stem cells isolated from excess embryos from in vitro fertilization clinics represent an immortal propagation of pluripotent cells that theoretically can generate any cell type within the human body (Lerou et al., 2008; Murry and Keller, 2008).”
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
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“Multiplex PCR analysis with primer sets amplifying several (but not all) intragenic intervals of the dystrophin gene (Beggs et al., 1990; Chamberlain et al., 1988) revealed the deletion of exons 45–52 in the iPS cells derived from a patient with Duchenne muscular dystrophy (DMD; Figure 1C).”
Generation of human induced pluripotent stem cells from dermal fibroblasts
Lowry, W. E., Richter, L., Yachechko, R., Pyle, A. D., Tchieu, J., Sridharan, R., Clark, A. T., & Plath, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711983105 · Cited by 1,041 · cited 2×
“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).”
Sequential Expression of Pluripotency Markers during Direct Reprogramming of Mouse 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.”
Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse
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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
Di Giorgio, F. P., Carrasco, M. A., Siao, M. C., Maniatis, T., & Eggan, K. (2007) · Nature Neuroscience · doi:10.1038/nn1885 · Cited by 799
Research works printed but not linked: 1
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Cited by
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Stem Cell Therapy for Alzheimer's Disease.
Han, F., Bi, J.-Z., Qiao, L.-Y., & Arancio, O. (2020) · Advances in Experimental Medicine and Biology · doi:10.1007/978-981-15-4370-8_4 · Cited by 19
Mechanisms underlying epilepsies associated with sodium channel mutations
Steinlein, O. K. (2014) · Progress in brain research · doi:10.1016/b978-0-444-63326-2.00005-3 · Cited by 26
Zinc positive: tailored genome engineering meets reprogramming
Cathomen, T., & Schambach, A. (2009) · Gene Therapy · doi:10.1038/gt.2009.151 · Cited by 19
“4 has opened the door for new approaches in regenerative medicine, such as the generation of patient-specific iPSC”
BackgroundAn improved method for generating and identifying human induced pluripotent stem cells.
Mali, P., Ye, Z.-H., Chou, B.-K., Yen, J. S., & Cheng, L.-Z. (2010) · Methods in molecular biology · doi:10.1007/978-1-60761-691-7_12 · Cited by 19
Early chromosome condensation by XIST builds A-repeat RNA density that facilitates gene silencing
Valledor, M., Byron, M., Dumas, B., Carone, D. M., Hall, L., & Lawrence, J. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112686 · Cited by 18
Hsu, L.-J., Liu, C., Kuo, M., Shen, C., & Shen, C. (2021) · Biomedicines · doi:10.3390/biomedicines9101323 · Cited by 19
Sanjurjo‐Rodríguez, C., Castro-Viñuelas, R., Piñeiro-Ramil, M., Rodríguez-Fernández, S., Fuentes-Boquete, I. M., Blanco, F. J., & Díaz‐Prado, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176124 · Cited by 22
“The first models of disease employing iPSCs were reported in 2008, when Park and colleagues produced the first large repository of disease-specific iPSCs [53].”
BackgroundLin, T.-C., Lin, Y.-Y., Hsu, C., Yang, Y.-P., Yang, C.-H., Hwang, D.-K., Wang, C.-Y., Liu, Y.-Y., Lo, W.-L., Chiou, S.-H., et al. (2019) · Cell Transplantation · doi:10.1177/0963689719860130 · Cited by 18
Reprogramming to pluripotency can conceal somatic cell chromosomal instability
Hamada, M., Malureanu, L. A., Wijshake, T., Zhou, W., & van Deursen, J. M. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002913 · Cited by 16
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11
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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