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Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
Open accessAbstract
Human pluripotent stem cells (hPS cells) can self-renew indefinitely, making them an attractive source for regenerative therapies. This expansion potential has been linked with the acquisition of large copy number variants that provide mutated cells with a growth advantage in culture. The nature, extent and functional effects of other acquired genome sequence mutations in cultured hPS cells are not known. Here we sequence the protein-coding genes (exomes) of 140 independent human embryonic stem cell (hES cell) lines, including 26 lines prepared for potential clinical use. We then apply computational strategies for identifying mutations present in a subset of cells in each hES cell line. Although such mosaic mutations were generally rare, we identified five unrelated hES cell lines that carried six mutations in the TP53 gene that encodes the tumour suppressor P53. The TP53 mutations we observed are dominant negative and are the mutations most commonly seen in human cancers. We found that the TP53 mutant allelic fraction increased with passage number under standard culture conditions, suggesting that the P53 mutations confer selective advantage. We then mined published RNA sequencing data from 117 hPS cell lines, and observed another nine TP53 mutations, all resulting in coding changes in the DNA-binding domain of P53. In three lines, the allelic fraction exceeded 50%, suggesting additional selective advantage resulting from the loss of heterozygosity at the TP53 locus. As the acquisition and expansion of cancer-associated mutations in hPS cells may go unnoticed during most applications, we suggest that careful genetic characterization of hPS cells and their differentiated derivatives be carried out before clinical use.
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“and six specific variants in TP53 have been identified in several hPSC lines.165”
From Developments in stem cell-derived islet replacement therapy for treating type 1 diabetes (2023) · cites this paper as [165]
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“For pluripotent stem cells—embryonic stem cells (ESCs) or induced pluripotent stem cells (iPSCs)—there appears to be a selection advantage for mutations of some oncogenes, in particular for TP53 and BCOR, which can become fixed in culture74,75.”
From How to design preclinical studies in nanomedicine and cell therapy to maximize the prospects of clinical translation (2018) · cites this paper as [74]
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Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., & Salzberg, S. L. (2013) · Genome Biology · doi:10.1186/gb-2013-14-4-r36 · Cited by 12,668
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Self-citationdbSNP: the NCBI database of genetic variation
Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Vogelstein, B., Lane, D., & Levine, A. J. (2000) · Nature · doi:10.1038/35042675 · Cited by 6,607 · cited 1×
“(15) not recoverable after thaw (3) unavailable (9)”
BackgroundAge-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1409405 · Cited by 3,531
Self-citationHigh-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792
Crystal Structure of a p53 Tumor Suppressor-DNA Complex: Understanding Tumorigenic Mutations
Cho, Y., Gorina, S., Jeffrey, P. D., & Pavletich, N. P. (1994) · Science · doi:10.1126/science.8023157 · Cited by 2,559
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Yamanaka, S. (2020) · Cell stem cell · doi:10.1016/j.stem.2020.09.014 · Cited by 1,268
p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells
Ihry, R. J., Worringer, K. A., Salick, M. R., Frias, E., Ho, D., Theriault, K., Kommineni, S., Chen, J., Sondey, M., Ye, C., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0050-6 · Cited by 978
Transcription factor-mediated differentiation of human iPSCs into neurons
Fernandopulle, M. S., Prestil, R., Grunseich, C., Wang, C., Gan, L., & Ward, M. E. (2018) · Current Protocols in Cell Biology · doi:10.1002/cpcb.51 · Cited by 461
Understanding the complexity of p53 in a new era of tumor suppression
Liu, Y., Su, Z., Tavana, O., & Gu, W. J. (2024) · Cancer Cell · doi:10.1016/j.ccell.2024.04.009 · Cited by 538
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues
Yizhak, K., Aguet, F., Kim, J., Hess, J. M., Kübler, K., Grimsby, J., Frazer, R., Zhang, H., Haradhvala, N. J., Rosebrock, D., et al. (2019) · Science · doi:10.1126/science.aaw0726 · Cited by 500
Current Challenges of iPSC-Based Disease Modeling and Therapeutic Implications
Doss, M. X., & Sachinidis, A. (2019) · Cells · doi:10.3390/cells8050403 · Cited by 486
Volpato, V., & Webber, C. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.042317 · Cited by 379
Sharma, R., Khristov, V., Rising, A. C., Jha, B. S., Dejene, R., Hotaling, N. A., Li, Y., Stoddard, J., Stankewicz, C., Wan, Q., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat5580 · Cited by 367
Gain-of-function mutant p53 in cancer progression and therapy
Zhang, C., Liu, J., Xu, D., Zhang, T., Hu, W., & Feng, Z. (2020) · Journal of Molecular Cell Biology · doi:10.1093/jmcb/mjaa040 · Cited by 358
Metabolic signatures of cancer cells and stem cells
Intlekofer, A. M., & Finley, L. W. S. (2019) · Nature Metabolism · doi:10.1038/s42255-019-0032-0 · Cited by 322
A reference human induced pluripotent stem cell line for large-scale collaborative studies
Pantazis, C. B., Yang, A., Lara, E., McDonough, J. A., Blauwendraat, C., Peng, L., Oguro, H., Kanaujiya, J., Zou, J., Sebesta, D., et al. (2022) · Cell Stem Cell · doi:10.1016/j.stem.2022.11.004 · Cited by 310
Self-citationEpigenetic resetting of human pluripotency
Guo, G., von Meyenn, F., Rostovskaya, M., Clarke, J., Dietmann, S., Baker, D., Sahakyan, A., Myers, S., Bertone, P., Reik, W., et al. (2017) · Development · doi:10.1242/dev.146811 · Cited by 324
The future of stem cell therapies for Parkinson disease
Parmar, M., Grealish, S., & Henchcliffe, C. (2020) · Nature reviews. Neuroscience · doi:10.1038/s41583-019-0257-7 · Cited by 329
Somatic Cell Nuclear Transfer Reprogramming: Mechanisms and Applications
Matoba, S., & Zhang, Y. (2018) · Cell stem cell · doi:10.1016/j.stem.2018.06.018 · Cited by 319
Insights into the Secretome of Mesenchymal Stem Cells and Its Potential Applications
Eleuteri, S., & Fierabracci, A. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20184597 · Cited by 311
Next-generation stem cells — ushering in a new era of cell-based therapies
Kimbrel, E. A., & Lanza, R. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-020-0064-x · Cited by 295
Quality Control Guidelines for Clinical-Grade Human Induced Pluripotent Stem Cell Lines
Sullivan, S. K., Stacey, G. N., Akazawa, C., Aoyama, N., Baptista, R. P., Bedford, P., Griscelli, A. B., Chandra, A., Elwood, N. J., Girard, M., et al. (2018) · Regenerative Medicine · doi:10.2217/rme-2018-0095 · Cited by 265
Quantification of subclonal selection in cancer from bulk sequencing data
Williams, M. J., Werner, B., Heide, T., Curtis, C. N., Barnes, C. P., Sottoriva, A., & Graham, T. A. (2018) · Nature Genetics · doi:10.1038/s41588-018-0128-6 · Cited by 250
Stem Cells in the Treatment of Disease
Blau, H. M., & Daley, G. Q. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1716145 · Cited by 235
Neurogenesis in aging and age-related neurodegenerative diseases
Čulig, L., Chu, X., & Bohr, V. A. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101636 · Cited by 235
Developments in stem cell-derived islet replacement therapy for treating type 1 diabetes
Hogrebe, N. J., Ishahak, M., & Millman, J. R. (2023) · Cell Stem Cell · doi:10.1016/j.stem.2023.04.002 · Cited by 210
Deciphering p53 signaling in tumor suppression
Mello, S. S., & Attardi, L. D. (2017) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2017.11.005 · Cited by 209
Wang, B., Iriguchi, S., Waseda, M., Ueda, N., Ueda, T., Xu, H., Minagawa, A., Ishikawa, A., Yano, H., Ishi, T., et al. (2021) · Nature Biomedical Engineering · doi:10.1038/s41551-021-00730-z · Cited by 189
Advances in regenerative therapy: A review of the literature and future directions
Ntege, E. H., Sunami, H., & Shimizu, Y. (2020) · Regenerative Therapy · doi:10.1016/j.reth.2020.01.004 · Cited by 201
Regenerating Eye Tissues to Preserve and Restore Vision
Stern, J. H., Tian, Y. I., Funderburgh, J. L., Pellegrini, G., Zhang, K., Goldberg, J. L., Ali, R. R., Young, M. J., Xie, Y., & Temple, S. (2018) · Cell stem cell · doi:10.1016/j.stem.2018.05.013 · Cited by 191
Song, B., Cha, Y., Ko, S., Jeon, J., Lee, N., Seo, H., Park, K., Lee, I., Lopes, C., Feitosa, M., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci130767 · Cited by 195
Gasparini, S. J., Llonch, S., Borsch, O., & Ader, M. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.11.001 · Cited by 189
Chen, Y., Tristan, C. A., Chen, L., Jovanovic, V. M., Malley, C. E., Chu, P., Ryu, S., Deng, T., Ormanoglu, P., Tao, D., et al. (2021) · Nature Methods · doi:10.1038/s41592-021-01126-2 · Cited by 178
Ioannidis, J. P. A., Kim, B. Y. S., & Trounson, A. (2018) · Nature Biomedical Engineering · doi:10.1038/s41551-018-0314-y · Cited by 175
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Pollen, A. A., Kilik, U., Lowe, C. B., & Camp, J. G. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00568-4 · Cited by 165
Pereira, J. D., DuBreuil, D. M., Devlin, A., Held, A., Sapir, Y., Berezovski, E., Hawrot, J., Dorfman, K., Chander, V., & Wainger, B. J. (2021) · Nature Communications · doi:10.1038/s41467-021-24776-4 · Cited by 159
Poetsch, M. S., Strano, A., & Guan, K. (2022) · Stem Cells · doi:10.1093/stmcls/sxac020 · Cited by 144
Pluripotent stem cell-based therapy for Parkinson’s disease: Current status and future prospects
Sonntag, K., Song, B., Lee, N., Jung, J. H., Cha, Y., Leblanc, P. R., Neff, C., Kong, S. W., Carter, B. S., Schweitzer, J., et al. (2018) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2018.04.005 · Cited by 144
Best Practices for Translational Disease Modeling Using Human iPSC-Derived Neurons
Engle, S. J., Blaha, L. C., & Kleiman, R. J. (2018) · Neuron · doi:10.1016/j.neuron.2018.10.033 · Cited by 148
Stem Cells, Genome Editing, and the Path to Translational Medicine
Soldner, F., & Jaenisch, R. (2018) · Cell · doi:10.1016/j.cell.2018.09.010 · Cited by 144
Thompson, O., von Meyenn, F., Hewitt, Z., Alexander, J. J., Wood, A., Weightman, R., Gregory, S., Krueger, F., Andrews, S., Barbaric, I., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15271-3 · Cited by 135
Defining essential genes for human pluripotent stem cells by CRISPR–Cas9 screening in haploid cells
Yilmaz, A., Peretz, M., Aharony, A., Sagi, I., & Benvenisty, N. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0088-1 · Cited by 139
Self-citationYoshida, S., Kato, T. M., Sato, Y., Umekage, M., Ichisaka, T., Tsukahara, M., Takasu, N., & Yamanaka, S. (2022) · i Medicina · doi:10.1016/j.medj.2022.10.003 · Cited by 118
Assessing the Safety of Human Pluripotent Stem Cells and Their Derivatives for Clinical Applications
Andrews, P. W., Ben‐David, U., Benvenisty, N., Coffey, P. J., Eggan, K. C., Knowles, B. B., Nagy, A., Pera, M. F., Reubinoff, B. E., Rugg‐Gunn, P. J., et al. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.05.029 · Cited by 132
Self-citationLong-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
Liu, Y., Chen, S. J., Li, S., Qu, L. H., Meng, X. H., Wang, Y. H., Xu, H., Liang, Z. Q., & Yin, Z. Q. (2017) · Stem Cell Research & Therapy · doi:10.1186/s13287-017-0661-8 · Cited by 129
Mair, B., Tomic, J., Masud, S. N., Tonge, P. J., Weiss, A., Ušaj, M., Tong, A. H. Y., Kwan, J. J., Brown, K. R., Titus, E., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.02.041 · Cited by 128
Assou, S., Girault, N., Plinet, M., Bouckenheimer, J., Sansac, C., Combe, M., Mianné, J., Bourguignon, C., Fieldès, M., Ahmed, E., et al. (2020) · Stem Cell Reports · doi:10.1016/j.stemcr.2019.12.004 · Cited by 130
Lung cancer stem cells—Origin, characteristics and therapy
Prabavathy, D., Swarnalatha, Y., & Ramadoss, N. (2018) · Stem Cell Investigation · doi:10.21037/sci.2018.02.01 · Cited by 125
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics
Krentz, N. A. J., & Gloyn, A. L. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0325-0 · Cited by 129
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Kuijk, E., Jager, M., van der Roest, B., Locati, M. D., Van Hoeck, A., Korzelius, J., Janssen, R., Besselink, N., Boymans, S., van Boxtel, R., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16323-4 · Cited by 124
Genome-wide CRISPR screen for Zika virus resistance in human neural cells
Li, Y., Muffat, J., Omer, A., Keys, H. R., Lungjangwa, T., Bosch, I., Khan, M., Virgilio, M., Gehrke, L., Sabatini, D. M., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1900867116 · Cited by 120
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Variability of human pluripotent stem cell lines
Ortmann, D., & Vallier, L. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.07.004 · Cited by 117
Rouhani, F. J., Zou, X., Danecek, P., Badja, C., Amarante, T. D., Koh, G., Wu, Q., Memari, Y., Durbin, R., Martincorena, I., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01147-3 · Cited by 105
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Martin, R. M., Fowler, J. L., Cromer, M. K., Lesch, B. J., Ponce, E., Uchida, N., Nishimura, T., Porteus, M. H., & Loh, K. M. (2020) · Nature Communications · doi:10.1038/s41467-020-16455-7 · Cited by 110
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Evans, M. A., & Walsh, K. X. (2022) · Physiological Reviews · doi:10.1152/physrev.00004.2022 · Cited by 112
Epigenetic aberrations in human pluripotent stem cells
Bar, S., & Benvenisty, N. (2019) · The EMBO Journal · doi:10.15252/embj.2018101033 · Cited by 107
Self-citationImproving 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
Acquired genetic changes in human pluripotent stem cells: origins and consequences
Halliwell, J. A., Barbaric, I., & Andrews, P. W. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-00292-z · Cited by 108
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Wei, C., Guo, Y., Ci, Z., Li, M., Zhang, Y., & Zhou, Y. (2024) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2024.116645 · Cited by 111
Vögtle, F. ‐., Brändl, B., Larson, A. A., Pendziwiat, M., Friederich, M. W., White, S. M., Basinger, A., Küçükköse, C., Muhle, H., Jähn, J. A., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.02.014 · Cited by 98
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Cho, D. I., Kang, H., Jeon, J. H., Eom, G. H., Cho, H. H., Kim, M. R., Cho, M., Jeong, H.-Y., Cho, H. C., Hong, M. H., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.125437 · Cited by 97
Aguado, J., Chaggar, H. K., Gómez‐Inclán, C., Shaker, M. R., Leeson, H. C., Mackay‐Sim, A., & Wolvetang, E. J. (2021) · Aging Cell · doi:10.1111/acel.13468 · Cited by 92
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Attwood, S. W., & Edel, M. J. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8030288 · Cited by 99
Grattoni, A., Korbutt, G., Tomei, A. A., García, A. J., Pepper, A. R., Stabler, C., Brehm, M., Papas, K., Citro, A., Shirwan, H., et al. (2025) · Nature Reviews Endocrinology · doi:10.1038/s41574-024-01029-0 · Cited by 92
Sharma, R., Bose, D., Maminishkis, A., & Bharti, K. (2020) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010919-023245 · Cited by 100
D’Antonio, M., Benaglio, P., Jakubosky, D. A., Greenwald, W. W. Y., Matsui, H., Donovan, M. K. R., Li, H., Smith, E. N., D’Antonio‐Chronowska, A., & Frazer, K. A. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.06.091 · Cited by 90
Midbrain organoids with an SNCA gene triplication model key features of synucleinopathy
Mohamed, N., Sirois, J., Ramamurthy, J., Mathur, M., Lépine, P., Deneault, É., Maussion, G., Nicouleau, M., Chen, C. X. ‐., Abdian, N., et al. (2021) · Brain Communications · doi:10.1093/braincomms/fcab223 · Cited by 91
Cederquist, G., Tchieu, J. H., Callahan, S. J., Ramnarine, K., Ryan, S. D., Zhang, C., Rittenhouse, C. A., Zeltner, N., Chung, S. Y., Zhou, T., et al. (2020) · Cell stem cell · doi:10.1016/j.stem.2020.06.004 · Cited by 89
Wang, B., Wang, H., Zhang, M., Ji, R., Wei, J., Xin, Y., & Jiang, X. M. (2020) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.15479 · Cited by 91
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z., Plötz, S., Farrell, M., Trautmann, U., Kraus, C. S., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-35506-0 · Cited by 89
The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells
Andrews, P. W., Barbaric, I., Benvenisty, N., Draper, J. S., Ludwig, T. E., Merkle, F. T., Sato, Y., Spits, C., Stacey, G. N., Wang, H., et al. (2022) · Cell stem cell · doi:10.1016/j.stem.2022.11.006 · Cited by 87
Self-citationZhang, H., Xu, J., Long, Y., Maimaitijiang, A., Su, Z., Li, W., & Li, J. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252312928 · Cited by 97
Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs
Hawrot, J., Imhof, S., & Wainger, B. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.104680 · Cited by 74
Zhang, C., Lee, H. J., Shrivastava, A., Wang, R., McQuiston, T. J., Challberg, S. S., Pollok, B. A., & Wang, T. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.072 · Cited by 80
Mapping genetic effects on cellular phenotypes with “cell villages”
Mitchell, J. M., Nemesh, J., Ghosh, S., Handsaker, R. E., Mello, C. J., Meyer, D., Raghunathan, K., de Rivera, H., Tegtmeyer, M., Hawes, D., et al. (2020) · doi:10.1101/2020.06.29.174383 · Cited by 63
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Sugita, S., Mandai, M., Kamao, H., & Takahashi, M. (2021) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.100950 · Cited by 77
Context-aware synthetic biology by controller design: Engineering the mammalian cell
Shakiba, N., Jones, R. D., Weiss, R., & Vecchio, D. D. (2021) · Cell Systems · doi:10.1016/j.cels.2021.05.011 · Cited by 78
Huang, M., Tailor, J. K., Zhen, Q., Gillmor, A. H., Miller, M. L., Weishaupt, H., Chen, J., Zheng, T., Nash, E. K., McHenry, L. K., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.05.013 · Cited by 75
Functions of p53 in pluripotent stem cells
Fu, X., Wu, S., Li, B., Xu, Y., & Liu, J. (2019) · Protein & Cell · doi:10.1007/s13238-019-00665-x · Cited by 80
Assou, S., Bouckenheimer, J., & De Vos, J. (2018) · Stem Cells · doi:10.1002/stem.2797 · Cited by 81
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes
Giordano, A. M. S., Luciani, M., Gatto, F., Abou Alezz, M., Beghè, C., Della Volpe, L., Migliara, A., Valsoni, S., Genua, M., Dzieciatkowska, M., et al. (2022) · Journal of Experimental Medicine · doi:10.1084/jem.20211121 · Cited by 76
Price, C. J., Stavish, D., Gokhale, P. J., Stevenson, B., Sargeant, S., Lacey, J., Rodríguez, T. A., & Barbaric, I. (2021) · Developmental Cell · doi:10.1016/j.devcel.2021.07.019 · Cited by 76
Human pallial MGE-type GABAergic interneuron cell therapy for chronic focal epilepsy
Bershteyn, M., Bröer, S., Parekh, M. B., Maury, Y., Havlicek, S., Kriks, S., Fuentealba, L. C., Lee, S., Zhou, R., Subramanyam, G., et al. (2023) · Cell stem cell · doi:10.1016/j.stem.2023.08.013 · Cited by 76
Pluripotent Stem Cells in Developmental Toxicity Testing: A Review of Methodological Advances
Luz, A. L., & Tokar, E. J. (2018) · Toxicological Sciences · doi:10.1093/toxsci/kfy174 · Cited by 76
Kim, M., Rhee, J., Choi, H., Kwon, A., Kim, J., Lee, D., Jekarl, D. W., Lee, S., Kim, Y., & Kim, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-15155-5 · Cited by 79
Tracing the transitions from pluripotency to germ cell fate with CRISPR screening
Hackett, J. A., Huang, Y., Günesdogan, U., Gretarsson, K. H., Kobayashi, T., & Surani, M. A. (2018) · Nature Communications · doi:10.1038/s41467-018-06230-0 · Cited by 68
Genome-Scale CRISPR Screens Identify Human Pluripotency-Specific Genes
Ihry, R. J., Salick, M. R., Ho, D. J., Sondey, M., Kommineni, S., Paula, S., Raymond, J., Henry, B., Frias, E., Wang, Q., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.03.043 · Cited by 73
Jha, B. S., Farnoodian, M., & Bharti, K. (2020) · Stem Cells Translational Medicine · doi:10.1002/sctm.20-0242 · Cited by 73
Chimeric antigen receptor-based natural killer cell immunotherapy in cancer: from bench to bedside
Zhang, B., Yang, M., Zhang, W., Liu, N., Wang, D., Jing, L., Xu, N., Yang, N., & Ren, T. (2024) · Cell Death and Disease · doi:10.1038/s41419-024-06438-7 · Cited by 73
Ford, E., Pearlman, J., Ruan, T., Manion, J., Waller, M. A., Neely, G. G., & Caron, L. (2020) · Cells · doi:10.3390/cells9112517 · Cited by 71
Scarless Genome Editing of Human Pluripotent Stem Cells via Transient Puromycin Selection
Steyer, B., Bu, Q., Cory, E., Jiang, K., Duong, S., Sinha, D., Steltzer, S. S., Gamm, D. M., Chang, Q., & Saha, K. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.12.004 · Cited by 68
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Berical, A. C., Lee, R. E., Randell, S. H., & Hawkins, F. J. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00074 · Cited by 62
Goswami, D., Domingo‐Lopez, D. A., Ward, N. A., Millman, J. R., Duffy, G. P., Dolan, E. B., & Roche, E. T. (2021) · Advanced Science · doi:10.1002/advs.202100820 · Cited by 72
Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner
Madsen, R. R., Knox, R. G., Pearce, W. P., López, S., Mahler-Araujo, B. M., McGranahan, N., Vanhaesebroeck, B., & Semple, R. K. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1821093116 · Cited by 65
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Řeháková, D., Souralová, T., & Koutná, I. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21072435 · Cited by 66
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Mirgayazova, R., Khadiullina, R., Chasov, V. V., Mingaleeva, R. N., Рифкатовна, М. Р., Rizvanov, A. A., & Bulatov, E. (2020) · Genes · doi:10.3390/genes11060704 · Cited by 68
Madrid, M., Lakshmipathy, U., Zhang, X., Bharti, K., Wall, D. M., Sato, Y., Muschler, G. F., Ting, A. E., Smith, N., Deguchi, S., et al. (2024) · Cytotherapy · doi:10.1016/j.jcyt.2024.05.022 · Cited by 67
Huang, Z., Powell, R., Phillips, J. B., & Haastert‐Talini, K. (2020) · Cells · doi:10.3390/cells9112497 · Cited by 66
Liquid biopsy in pancreatic cancer: the beginning of a new era
Yadav, D. K., Bai, X., Yadav, R. K., Singh, A., Li, G., Ma, T., Chen, W., & Liang, T. (2018) · Oncotarget · doi:10.18632/oncotarget.24809 · Cited by 62
Yasuda, S.-Y., Ikeda, T., Shahsavarani, H., Yoshida, N., Nayer, B., Hino, M., Vartak-Sharma, N., Suemori, H., & Hasegawa, K. (2018) · Nature Biomedical Engineering · doi:10.1038/s41551-018-0200-7 · Cited by 59
Prentice, D. A. (2019) · Circulation Research · doi:10.1161/circresaha.118.313664 · Cited by 63
Metadata
- Authors
- Merkle, F. T., Ghosh, S., Kamitaki, N., Mitchell, J., Avior, Y., Mello, C., Kashin, S., Mekhoubad, S., Ilic, D., Charlton, M., Saphier, G., Handsaker, R. E., Genovese, G., Bar, S., Benvenisty, N., McCarroll, S. A., & Eggan, K.
- Affiliations
- Broad Institute (US)
- Hebrew University of Jerusalem (IL)
- Harvard University (US)
- Corresponding author
- McCarroll, Steven A.
- Eggan, Kevin
- ORCID
- Venue
- Nature
- Published
- 2017-04-26
- Volume
- 545
- Issue
- 7653
- Pages
- 229-233
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5427175
- OpenAlex
- W2608500349
- Cited by
- 506
- References
- 44
- Citations by year
- 2026: 38 · 2025: 44 · 2024: 50 · 2023: 42 · 2022: 56 · 2021: 68 · 2020: 65 · 2019: 54 · 2018: 50 · 2017: 35
- FWCI
- 22.89
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- Wellcome Trust
- Academy of Medical Sciences (SBF001\1016)
- Rosetrees Trust (M108-F1)
- National Institutes of Health (5K99NS08371)
- Medical Research Council (MC_PC_12009, MR/P501967/1)
- National Heart, Lung, and Blood Institute (R01HL109525)
- National Human Genome Research Institute (R01HG006855)
- National Institute of General Medical Sciences (P01GM099117)
- National Institute of Neurological Disorders and Stroke (K99NS083713)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- human pluripotent stem cells, human embryonic stem cells, induced pluripotent stem cells, TP53 mutation, dominant-negative p53, somatic mosaicism, copy number variation, clonal expansion, tumour suppressor, DNA-binding domain, stem cell culture conditions, exome sequencing, RNA sequencing
- MeSH terms
- Human Embryonic Stem Cells, Protein Domains, Alleles, Cell Count, Cell Differentiation, Cell Division, Cell Line, DNA, DNA Mutational Analysis, Genes, Dominant, Humans, Mosaicism, Mutation, Neoplasms, Selection, Genetic, Genes, p53, Tumor Suppressor Protein p53, Loss of Heterozygosity, Induced Pluripotent Stem Cells, Exome
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