The DOI matches its Crossref record; 31 of the 34 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
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. (2007) · Science · doi:10.1126/science.1151526 · Cited by 10,310 · 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).”
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
Chamberlain, J. S., Gibbs, R. A., Rainer, J. E., Nguyen, P. N., & Caskey, C. T. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.23.11141 · Cited by 1,271 · cited 2×
“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
Brambrink, T., Foreman, R. K., Welstead, G. G., Lengner, C. J., Wernig, M., Suh, H., & Jaenisch, R. (2008) · Cell stem cell · doi:10.1016/j.stem.2008.01.004 · Cited by 839 · cited 2×
“…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
Stadtfeld, M., Maherali, N., Breault, D. T., & Hochedlinger, K. (2008) · Cell stem cell · doi:10.1016/j.stem.2008.02.001 · Cited by 823 · cited 4×
“…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
Flagged first, then by citations
3 of the 34 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- 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
Cited by
Sorted by citations
Items 701–800 of 1,010
Finding the needle in the hay stack: Hematopoietic stem cells in Fanconi anemia
Müller, L., & Williams, D. A. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.03.010 · Cited by 30
Patient-specific pluripotent stem cells: promises and challenges
Müller, R., & Lengerke, C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.18 · Cited by 36
Stem cells, organoids, and organ-on-a-chip models for personalized in vitro drug testing
van Berlo, D., Nguyen, V. V. T., Gkouzioti, V., Leineweber, K., Verhaar, M. C., & van Balkom, B. W. M. (2021) · Current Opinion in Toxicology · doi:10.1016/j.cotox.2021.08.006 · Cited by 44
Modeling Keratoconus Using Induced Pluripotent Stem Cells
Joseph, R., Srivastava, O. P., & Pfister, R. R. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19105 · Cited by 47
Tidball, A. M., Neely, M., Chamberlin, R., Aboud, A. A., Kumar, K. K., Han, B., Bryan, M. R., Aschner, M., Ess, K. C., & Bowman, A. B. (2016) · PLoS ONE · doi:10.1371/journal.pone.0150372 · Cited by 35
Smith, D. K., He, M., Zhang, C., & Zheng, J. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.01.006 · Cited by 34
“The ability to induce pluripotency and direct neural differentiation of diverse diseasespecific somatic cells enabled novel mechanistic studies into the progressive onset of neurodegeneration (Park et al., 2008).”
BackgroundBrault, J., Goutagny, E., Telugu, N., Shao, K., Baquié, M., Satre, V., Coutton, C., Grunwald, D., Brion, J., Barlogis, V., et al. (2014) · BioResearch Open Access · doi:10.1089/biores.2014.0045 · Cited by 35
“Since then many types of somatic cells have been reprogrammed, including those from patients with different inherited disease types.(4) In addition, reprogramming methods became more efficient, reproducible and enable generation of transgenefree iPSCs under xeno-free conditions, which is an important prerequisite for…”
BackgroundSkoglund, G., Lainé, J., Darabi, R., Fournier, E., Perlingeiro, R. C. R., & Tabti, N. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322258111 · Cited by 45
“Changes in [Ca]i were assessed with the R340/380, which directly reflects interaction of fura-2 with the intracellular Ca (2).”
BackgroundMethodTranscriptional regulation in pluripotent stem cells by methyl CpG-binding protein 2 (MeCP2)
Tanaka, Y., Kim, K., Zhong, M., Pan, X., Weissman, S. M., & Park, I. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt500 · Cited by 38
“The patient-derived iPSCs grow indefinitely in culture and can be used for monitoring pathophysiology of the diseases and testing drug responses in vitro (25,26).”
BackgroundSelf-citationPandian, G., Ohtsuki, A., Bando, T., Sato, S., Hashiya, K., & Sugiyama, H. (2012) · Bioorganic & Medicinal Chemistry · doi:10.1016/j.bmc.2012.02.032 · Cited by 35
Kano, S., Nwulia, E. A., Niwa, M., Chen, Y., Sawa, A., & Cascella, N. G. (2011) · Neuroscience Research · doi:10.1016/j.neures.2011.07.1818 · Cited by 32
Stem cell approaches for the treatment of type 1 diabetes mellitus
Wagner, R. T., Lewis, J., Cooney, A. J., & Chan, L. (2010) · Translational research · doi:10.1016/j.trsl.2010.06.005 · Cited by 33
Stem Cell Model of Spinal Muscular Atrophy
Ebert, A. D., & Svendsen, C. N. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.89 · Cited by 30
Induced Pluripotent Reprogramming from Promiscuous Human Stemness‐Related Factors
Nelson, T. J., Martinez‐Fernandez, A., Yamada, S., Mael, A. A., Terzic, A., & Ikeda, Y. (2009) · Clinical and Translational Science · doi:10.1111/j.1752-8062.2009.00091.x · Cited by 33
Momčilović, O., Navara, C. S., & Schatten, G. P. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-19065-0_18 · Cited by 30
“2008), from patients with various genetic diseases (Park et al. 2008), as well as with nonintegrating vectors (Yu et al.”
BackgroundBerlet, R., Cabantan, D. A. G., Gonzales-Portillo, D., & Borlongan, C. V. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.798826 · Cited by 40
SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism
Lithovius, V., Saarimäki-Vire, J., Balboa, D., Ibrahim, H., Montaser, H., Barsby, T., & Otonkoski, T. (2021) · Diabetologia · doi:10.1007/s00125-020-05346-7 · Cited by 34
Modeling genetic epilepsies in a dish
Niu, W., & Parent, J. M. (2019) · Developmental Dynamics · doi:10.1002/dvdy.79 · Cited by 38
“Soon after, iPSC disease modeling was developed by differentiating the cells into tissues relevant for investigating specific diseases.(15,16) Patient iPSCs carry the identical mutation(s) in the context of the patient's specific genetic background.”
BackgroundMukherjee-Clavin, B., Mi, R., Kern, B., Choi, I. Y., Lim, H., Oh, Y., Lannon, B. M., Kim, K. J., Bell, S., Hur, J. K., et al. (2019) · Nature Biomedical Engineering · doi:10.1038/s41551-019-0381-8 · Cited by 36
Krieger, T. G., Moran, C., Frangini, A., Visser, W. E., Schoenmakers, E., Muntoni, F., Clark, C. A., Gadian, D. G., Chong, W. K., Kuczynski, A., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1908762116 · Cited by 43
Down syndrome: An integrative review
Diamandopoulos, K., & Green, J. (2018) · Journal of Neonatal Nursing · doi:10.1016/j.jnn.2018.01.001 · Cited by 34
Modeling Huntington׳s disease with patient-derived neurons
Mattis, V. B., & Svendsen, C. N. (2015) · Brain Research · doi:10.1016/j.brainres.2015.10.001 · Cited by 40
“The first HD iPSC line to be reported did not initially demonstrate a phenotype (Park et al., 2008); however, upon further evaluation, this HD line showed increased caspase activation in neural stem cells (Zhang et al.”
BackgroundResultUse of human stem cells in Huntington disease modeling and translational research
Golas, M. M., & Sander, B. O. (2016) · Experimental Neurology · doi:10.1016/j.expneurol.2016.01.021 · Cited by 37
Li, W., Chen, S., & Li, J. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.009 · Cited by 35
Takahashi, H., Shimizu, T., Nakayama, M., Yamato, M., & Okano, T. (2014) · Advanced Healthcare Materials · doi:10.1002/adhm.201400297 · Cited by 38
Berry, S. E. (2015) · Stem Cells Translational Medicine · doi:10.5966/sctm.2014-0060 · Cited by 34
Pharmacological protein targets in polyglutamine diseases: Mutant polypeptides and their interactors
Margulis, B. A., Vigont, V. A., Lazarev, V. F., Kaznacheyeva, E. V., & Guzhova, I. V. (2013) · FEBS Letters · doi:10.1016/j.febslet.2013.05.022 · Cited by 32
Genomics and Bioinformatics of Parkinson's DiseasePreprint
Scholz, S. W., Mhyre, T. R., Ressom, H. W., Shah, S. A., & Federoff, H. J. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009449 · Cited by 32
“For example, induced pluripotent stem (iPS) cells derived from patients may become an important resource not only for understanding disease biology (Park et al. 2008) and fueling biomarker elucidation, but also as a strategic part of therapeutics development (Wernig et al.”
BackgroundCell replacement therapy for Parkinson’s disease: how close are we to the clinic?
Ganz, J., Lev, N., Melamed, E., & Offen, D. (2011) · Expert Review of Neurotherapeutics · doi:10.1586/ern.11.74 · Cited by 30
A novel strategy to derive iPS cells from porcine fibroblasts
Ruan, W., Han, J., Li, P., Cao, S.-Y., An, Y., Lim, B., & Li, N. (2011) · Science China Life Sciences · doi:10.1007/s11427-011-4179-5 · Cited by 34
Prospects of Induced Pluripotent Stem Cell Technology in Regenerative Medicine
Zhang, F., Citra, F., & Wang, D.-A. (2011) · Tissue engineering. Part B, Reviews · doi:10.1089/ten.teb.2010.0549 · Cited by 34
“iPS cells have been obtained from patients with various diseases, for example, ALS, adenosine deaminase deficiency, Huntington disease, Gaucher disease, type 1 diabetes mellitus, muscular dystrophies, and Down and Lesch-Nyhan syndromes.(9) The efficacy of iPS cells in these disease models would all potentially be inve…”
Generation of pancreatic islet cells from human embryonic stem cells
Zhang, D.-H., Jiang, W., Shi, Y., & Deng, H. (2009) · Science in China Series C Life Sciences · doi:10.1007/s11427-009-0095-3 · Cited by 34
Modeling motor neuron disease: the matter of time
Arbab, M., Baars, S., & Geijsen, N. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2014.07.008 · Cited by 33
APOE2 mitigates disease-related phenotypes in an isogenic hiPSC-based model of Alzheimer’s disease
Brookhouser, N., Raman, S., Frisch, C., Srinivasan, G., & Brafman, D. A. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01076-3 · Cited by 33
“Control and AD-patient hPSCs were generated from dermal fibroblasts as previously described [27].”
MethodUsing induced pluripotent stem cell neuronal models to study neurodegenerative diseases
Zhang, X., Hu, D., Shang, Y., & Qi, X. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2019.03.004 · Cited by 36
Combining Induced Pluripotent Stem Cells and Genome Editing Technologies for Clinical Applications
Chang, C.-Y., Ting, H.-C., Su, H., & Jeng, J. (2018) · Cell Transplantation · doi:10.1177/0963689718754560 · Cited by 39
Ghaffari, L., Starr, A., Nelson, A. T., & Sattler, R. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00056 · Cited by 35
“Park et al. created the first Parkinson’s disease iPSC line, together with other neurodegenerative disease lines (Park et al., 2008).”
BackgroundYang, Z., Yao, H., Fei, F., Li, Y., Qu, J., Li, C., & Zhang, S. (2018) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-018-2598-4 · Cited by 43
Chang, J.-H., Tsai, P.-H., Chen, W., Chiou, S.-H., & Mou, C.-Y. (2017) · Journal of materials chemistry. B · doi:10.1039/c7tb00351j · Cited by 33
Mori, E., Fujikura, J., Noguchi, M., Nakao, K., Matsubara, M., Sone, M., Taura, D., Kusakabe, T., Ebihara, K., Tanaka, T., et al. (2016) · Metabolism · doi:10.1016/j.metabol.2015.12.015 · Cited by 27
“More recently, diseasespecific iPS cells have been generated from patients with various diseases [14–23], although not from patients with CGL.”
BackgroundChatzidaki, A., Fouillet, A., Li, J., Dage, J. L., Millar, N. S., Sher, E., & Ursu, D. (2015) · PLoS ONE · doi:10.1371/journal.pone.0125116 · Cited by 33
“Indeed, recent studies using iPSC-derived neurons generated from patients have been successful in demonstrating phenotypes associated with a variety of diseases, such as Phelan— McDermid, Timothy, and Rett syndromes [19–25].”
BackgroundWang, T., Choi, E. H., Monaco, M. C., Campanac, E., Medynets, M., Do, T., Rao, P., Johnson, K. R., ELKAHLOUN, A. G., von Geldern, G., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081720 · Cited by 31
MHC Universal Cells Survive in an Allogeneic Environment after Incompatible Transplantation
Figueiredo, C., Wedekind, D., Müller, T., Vahlsing, S., Horn, P., Seltsam, A., & Blasczyk, R. (2013) · BioMed Research International · doi:10.1155/2013/796046 · Cited by 33
“In fact, this strategy allows for the generation of disease-specific iPS cell lines for diseases such asHuntington’s disease, congenital dyskeratosis, and fragile X syndrome [3, 35, 36].”
BackgroundThinking outside the liver: Induced pluripotent stem cells for hepatic applications
Rao, M. S. (2013) · World Journal of Gastroenterology · doi:10.3748/wjg.v19.i22.3385 · Cited by 32
Putkhao, K., Kocerha, J., Cho, I. K., Yang, J., Parnpai, R., & Chan, A. W. S. (2012) · Stem Cells and Development · doi:10.1089/scd.2012.0469 · Cited by 32
“Although recent advancement in induced pluripotent stem cell technology has opened a new gateway for modeling human diseases using patients own pluripotent stem cells [13–19], the rationale in the derivation of rHD-embryonic stem cells (ESCs) from a transgenic HD monkey are (1) confirming germline transmission of tran…”
iPS Cells in Type 1 Diabetes Research and Treatment
Maehr, R. (2011) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2011.1 · Cited by 28
Das, A. K., & Pal, R. (2010) · Journal of Tissue Engineering and Regenerative Medicine · doi:10.1002/term.258 · Cited by 31
“So, adenoviral delivery and transient transfection has been preferred for this purpose (Park et al., 2008).”
BackgroundInfluentialInduced Pluripotent Stem Cells and Organoids in Advancing Neuropathology Research and Therapies
Pazzin, D. B., Previato, T. T. R., Gonçalves, J. I. B., Zanirati, G., Xavier, F. A. C., DaCosta, J. C., & Marinowic, D. R. (2024) · Cells · doi:10.3390/cells13090745 · Cited by 36
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Lent, J. V., Vendredy, L., Adriaenssens, E., Authier, T. D. S., Asselbergh, B., Kaji, M., Weckhuysen, S., van den Bosch, L., Baets, J., & Timmerman, V. (2022) · Brain : a journal of neurology · doi:10.1093/brain/awac475 · Cited by 32
“Induced pluripotent stem cells (iPSCs) form a powerful tool to study CMT with.(6,7) Different studies reported CMT disease hallmarks in e.”
BackgroundSułkowski, M., Konieczny, P. S., Chlebanowska, P., & Majka, M. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19010197 · Cited by 37
Caldas, H., Lojudice, F., Dias, C., Fernandes-Charpiot, I., Baptista, M., Kawasaki-Oyama, R. S., Sogayar, M., Takiya, C., & Abbud-filho, M. (2017) · Stem Cells International · doi:10.1155/2017/7428316 · Cited by 32
“However, the major obstacle to their use in clinical practice is associated with controversial ethical dilemmas and with uncontrolled growth and cancer formation [5].”
BackgroundLee, I., Huang, S., Chuang, C.-Y., Liao, K., Chang, L.-H., Chuang, C.-C., Su, Y.-S., Lin, H.-J., Hsieh, J.-Y., Su, S., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-02137-w · Cited by 32
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures
Amano, T., Jeffries, E., Amano, M., Ko, A. C., Yu, H., & Ko, M. (2015) · DNA Research · doi:10.1093/dnares/dsv016 · Cited by 32
Poon, M.-W., He, J., Fang, X., Zhang, Z., Wang, W., Wang, J., Qiu, F., Tse, H., Li, W. S., Liu, Z., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0131288 · Cited by 13
Induced pluripotent stem cells: origins, applications, and future perspectives
Zhao, J. Y., Jiang, W., Sun, C., Hou, C., Yang, X., & Gao, J. (2013) · Journal of Zhejiang University SCIENCE B · doi:10.1631/jzus.b1300215 · Cited by 34
“…deaminase deficiency-related severe combined immunodeficiency, Shwachman-Bodian-Diamond syndrome, Gaucher disease, Duchenne muscular dystrophy, Becker muscular dystrophy, Huntington's disease, type 1 diabetes mellitus, Down syndrome, and Lesch-Nyhan syndrome (carriers) (Park et al., 2008).”
BackgroundAmniotic Fluid Stem Cells: Future Perspectives
Rosner, M., Schipany, K., Shanmugasundaram, B., Lubec, G., & Hengstschläger, M. (2012) · Stem Cells International · doi:10.1155/2012/741810 · Cited by 32
“Also a variety of iPS lines from single-gene disorders, chromosome syndromes, and complex diseases have already been generated, with the aim to use them for basic research projects [35].”
BackgroundCalcium signaling in pluripotent stem cells
Apáti, Á., Pászty, K., Erdei, Z., Szebényi, K., Homolya, L., & Sarkadi, B. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.08.038 · Cited by 31
Pasquale, E. D., Latronico, M. V. G., Jotti, G. S., & Condorelli, G. (2012) · Gene Therapy · doi:10.1038/gt.2012.19 · Cited by 35
Gaucher Disease and Cancer: Concept and Controversy
Choy, F., & Campbell, T. N. (2011) · International Journal of Cell Biology · doi:10.1155/2011/150450 · Cited by 32
Making cortex in a dish: In vitro corticopoiesis from embryonic stem cells
Gaspard, N., Gaillard, A., & Vanderhaeghen, P. (2009) · Cell Cycle · doi:10.4161/cc.8.16.9276 · Cited by 29
Dadheech, N., & Shapiro, A. M. J. (2018) · Advances in experimental medicine and biology · doi:10.1007/5584_2018_305 · Cited by 44
Clinical translation of human iPSC technologies: advances, safety concerns, and future directions
Dhaiban, S., Chandran, S., Noshi, M., & Sajini, A. A. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1627149 · Cited by 39
“…creation of disease-specific cellular models for conditions such as Parkinson’s disease, Alzheimer’s disease, Duchenne muscular dystrophy, and type I diabetes, facilitating patient-specific mechanistic studies and therapeutic screening (Park et al., 2008a; Soldner et al., 2009; Jang et al., 2012).”
Reprogramming: Emerging Strategies to Rejuvenate Aging Cells and Tissues
Alle, Q., Le Borgne, E., Milhavet, O., & Lemaitre, J.-M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22083990 · Cited by 35
Recent advances in the design of implantable insulin secreting heterocellular islet organoids.
Akolpoglu, M. B., Inceoğlu, Y., Bozuyuk, U., Sousa, A. R., Oliveira, M. B., Mano, J., & Kızılel, S. (2020) · Biomaterials · doi:10.1016/j.biomaterials.2020.120627 · Cited by 31
Modeling blood diseases with human induced pluripotent stem cells
Georgomanoli, M., & Papapetrou, E. P. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.039321 · Cited by 35
Shafa, M., Yang, F., Fellner, T., Rao, M. S., & Baghbaderani, B. A. (2018) · Frontiers in Medicine · doi:10.3389/fmed.2018.00069 · Cited by 35
“J Am Coll Cardiol (2014) 64(5):436–48.”
Efficient production of trophoblast lineage cells from human induced pluripotent stem cells
Kojima, J., Fukuda, A., Taira, H., Kawasaki, T., Ito, H., Kuji, N., Isaka, K., Umezawa, A., & Akutsu, H. (2017) · Laboratory Investigation · doi:10.1038/labinvest.2016.159 · Cited by 31
Reprogramming Methods Do Not Affect Gene Expression Profile of Human Induced Pluripotent Stem Cells
Trevisan, M., Desole, G., Costanzi, G., Lavezzo, E., Palù, G., & Barzon, L. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18010206 · Cited by 32
Li, Y., Liu, T., Halm-Lutterodt, N. I. V., Chen, J.-Y., Su, Q.-J., & Yong, H. (2016) · Stem cell research & therapeutics · doi:10.1186/s13287-016-0290-7 · Cited by 31
“In addition to cell-based therapeutic applications, iPSC technology could also provide patientspecific cells and tissue models for tissue repair [7].”
Jacobson, R. S., Thurston, R. L., Shrestha, B., & Vértes, Á. (2015) · Analytical Chemistry · doi:10.1021/acs.analchem.5b02971 · Cited by 30
The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment
Acab, A., & Muotri, A. R. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0354-x · Cited by 31
Allodi, I., & Hedlund, E. (2014) · Frontiers in Neuroscience · doi:10.3389/fnins.2014.00109 · Cited by 31
“C). iPSCs from patients with e.g., Parkinson disease or motor neuron diseases, including ALS and SMA (Demos et al., 2008; Park et al., 2008; Corti et al., 2012; Sanchez-Danes et al., 2012; Alami et al., 2014), are vital tools to study presymptomatic and symptomatic disease events in a dish.”
BackgroundGarate, Z., Davis, B. R., Bustamante, O. Q., & Segovia, J. C. (2013) · Human Gene Therapy · doi:10.1089/hum.2012.251 · Cited by 31
“That is why fibroblasts have been widely used by many groups (Takahashi et al., 2007; Park et al., 2008; Fusaki et al., 2009; Carvajal-Vergara et al., 2010; Liu et al., 2010; Howden et al., 2011; Papapetrou et al., 2011; Sebastiano et al., 2011; Tanaka et al., 2012).”
BackgroundInduced Pluripotent Stem Cells in Cardiovascular Medicine
Egashira, T., Yuasa, S., & Fukuda, K. (2011) · Stem Cells International · doi:10.4061/2011/348960 · Cited by 30
“Surprisingly latest research showed that abnormal gene expression in some cells differentiated from iPSCs can induce T-cell-dependent immune response in syngeneic recipients in contrast to derivatives of ESCs [83].”
ResultInduced Pluripotent Stem Cells: Emerging Techniques for Nuclear Reprogramming
Han, J. W., & Yoon, Y. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2010.3814 · Cited by 43
“The ability to generate pluripotent cells that differentiate into most cell types will also make possible the generation of in vitro models of human disease and drugscreening tools (29, 137, 193).”
BackgroundInduced pluripotent stem cells: a new tool for toxicology screening?
Heng, B. C., Richards, M., Shu, Y., & Gribbon, P. M. (2009) · Archives of Toxicology · doi:10.1007/s00204-009-0414-2 · Cited by 25
“Indeed, iPSC lines representative of a variety of human genetic diseases such as Parkinson’s disease, Down’s syndrome and Type 1 diabetes mellitus have already been created ( Park et al. 2008 ).”
BackgroundPast, Present, and Future of Neuronal Models In Vitro
Keller, J. M., & Frega, M. (2019) · Advances in neurobiology · doi:10.1007/978-3-030-11135-9_1 · Cited by 36
Pluripotent stem cell-based models of spinal muscular atrophy
Frattini, E., Ruggieri, M., Salani, S., Faravelli, I., Zanetta, C., Nizzardo, M., Simone, C., Magri, F., & Corti, S. P. (2014) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2014.12.005 · Cited by 34
“So far, disease- andpatient-specific iPSC lines have beenobtained for several disorders, including major neurodegenerative diseases, such as Parkinson's disease (Sanchez-Danes et al., 2012; Park et al., 2008; Soldner et al., 2011), amyotrophic lateral sclerosis (Yang et al.”
BackgroundInfluentialHuman iPS cell derivation/reprogramming.
Park, I.-H., & Daley, G. (2009) · Current protocols in stem cell biology · doi:10.1002/9780470151808.sc04a01s8 · Cited by 31
Self-citationIn‐a‐dish: Induced pluripotent stem cells as a novel model for human diseases
Beltrão‐Braga, P. C. B., Pignatari, G. C., Russo, F. B., Fernandes, I. R., & Muotri, A. R. (2013) · Cytometry Part A · doi:10.1002/cyto.a.22231 · Cited by 30
Zhang, W., Ross, P. J., Ellis, J., & Salter, M. W. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02010-z · Cited by 36
Generation and manipulation of human iPSC-derived platelets
Sugimoto, N., & Eto, K. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03749-8 · Cited by 34
G2019S Variation in LRRK2: An Ideal Model for the Study of Parkinson’s Disease?
Ren, C., Ding, Y., Wei, S., Guan, L., Zhang, C., Ji, Y., Wang, F., Yin, S., & Yin, P. (2019) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2019.00306 · Cited by 42
“The development of induced pluripotent stem cells (iPSCs) and related techniques has provided new ideas for resolving the above issues (Park et al., 2008; Bumpei et al., 2016).”
BackgroundLee, S. H., & Jun, B. (2018) · Journal of Industrial and Engineering Chemistry · doi:10.1016/j.jiec.2018.11.041 · Cited by 44
Humanity in a Dish: Population Genetics with iPSCs
Warren, C. R., & Cowan, C. A. (2017) · Trends in Cell Biology · doi:10.1016/j.tcb.2017.09.006 · Cited by 27
Self-citationHosokawa, Y., Toyoda, T., Fukui, K., Baden, M. Y., Funato, M., Kondo, Y., Sudo, T., Iwahashi, H., Kishida, M., Okada, C., et al. (2017) · Journal of Diabetes Investigation · doi:10.1111/jdi.12727 · Cited by 35
Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases
Shi, L., Cui, Y., Luan, J. Y., Zhou, X., & Han, J. (2016) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2016.01062 · Cited by 33
“Because iPSCs resemble ESCs in terms of pluripotency and the potential for self-renewal, patient-specific iPSCs could represent a promising strategy for investigating the molecular mechanisms of disease and discovery of drugs to treat them (93,94).”
BackgroundHuman Neural Tissue Construct Fabrication Based on Scaffold‐Free Tissue Engineering
Takahashi, H., Itoga, K., Shimizu, T., Yamato, M., & Okano, T. (2016) · Advanced Healthcare Materials · doi:10.1002/adhm.201600197 · Cited by 37
Human induced pluripotent stem cells for monogenic disease modelling and therapy
Spitalieri, P., Talarico, V. R., Murdocca, M., Novelli, G., & Sangiuolo, F. C. (2016) · World Journal of Stem Cells · doi:10.4252/wjsc.v8.i4.118 · Cited by 34
Re-epithelialization: a key element in tracheal tissue engineering.
Zhang, H., Fu, W., & Xu, Z. (2015) · Regenerative medicine · doi:10.2217/rme.15.68 · Cited by 30
Unique features of mutations revealed by sequentially reprogrammed induced pluripotent stem cells
Gao, S., Zheng, C., Chang, G., Liu, W., Kou, X., Tan, K., Tao, L., Xu, K., Wang, H., Cai, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms7318 · Cited by 29
“The following criteria were applied: (1) the minimum coverage of the variant sites was 20; (2) the Phred-scaled base quality was 415; (3) the mutant allele frequency was 40.”
MethodGeneration of Patient-Specific Induced Neuronal Cells Using a Direct Reprogramming Strategy
Wang, P., Zhang, H. L., Li, W., Sha, H., Xu, C., Yao, L., Tang, Q., Tang, H., Chen, L., & Zhu, J. (2013) · Stem Cells and Development · doi:10.1089/scd.2013.0131 · Cited by 28
“Successful reprogramming of adult fibroblasts into induced pluripotent stem (iPS) cells using defined transcription factors gives a potential approach to generate functional cells for the patient himself [1–14].”
Disease-Specific iPS Cell Models in Neuroscience
Peitz, M., Jungverdorben, J., & Brüstle, O. (2013) · Current Molecular Medicine · doi:10.2174/1566524011313050014 · Cited by 29
Zhou, J., Wang, X., Zhang, S., Gu, Y., Yu, L., Wu, J., Gao, T., & Chen, F. (2012) · Stem Cells and Development · doi:10.1089/scd.2012.0260 · Cited by 29
“Human iPS cells are considered valuable research tools [9,16,17].”
BackgroundHuman-Induced Pluripotent Stem Cells: In Quest of Clinical Applications
Madonna, R. (2012) · Molecular Biotechnology · doi:10.1007/s12033-012-9504-0 · Cited by 30
“Recently, the generation of patientspecific iPS cells has been successfully established from patients with amyotrophic lateral sclerosis, spinal muscular atrophy (SMA), Parkinson disease, familial dysautonomia (FD), Fanconi anemia, adenosine deaminase deficiency, Schwachman–Bodian–Diamond syndrome, Gaucher disease, Du…”
BackgroundFemale Sex Bias in Human Embryonic Stem Cell Lines
Ben-Yosef, D., Amit, A., Malcov, M., Frumkin, T., Ben-Yehudah, A., Eldar, I., Mey-Raz, N., Azem, F., Altarescu, G., Renbaum, P., et al. (2012) · Stem Cells and Development · doi:10.1089/scd.2011.0102 · Cited by 30
“An alternative approach for establishing mutant pluripotent SC lines is to generate patient-specific induced pluripotent stem (iPS) cells [13–17].”
Rosner, M., Dolznig, H., Schipany, K., Mikula, M., Brandau, O., & Hengstschläger, M. (2011) · Oncotarget · doi:10.18632/oncotarget.328 · Cited by 27
“In 2008, the generation of iPS cells from patients with specific genetic diseases was first described [17,18].”
BackgroundThe role of induced pluripotent stem cells in regenerative medicine: neurodegenerative diseases
Peng, J., & Zeng, X. (2011) · Stem Cell Research & Therapy · doi:10.1186/scrt73 · Cited by 33
“Th ese patient-specifi c iPSCs possess properties of hESCs when grown in co-culture with mouse embryonic feeder fi broblasts [ 5 ].”
BackgroundOkada, M., & Yoneda, Y. (2011) · Biochimica et Biophysica Acta · doi:10.1016/j.bbagen.2010.10.004 · Cited by 30
“These studies indicate that iPS cells could provide a resource for in vitro usage, including drug screening and disease modeling [29-31], and cell transplantation therapy.”
BackgroundInduced pluripotent stem cells: paths to new medicines
Deng, W. (2010) · EMBO Reports · doi:10.1038/embor.2010.15 · Cited by 34
“Indeed, recent studies have shown the initial success of 20 different disease-specific iPSC lines”
Background
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
