The genetic landscape of human induced pluripotent stem cells (iPSCs) is strongly influenced by the somatic cells of origin, and mutational signatures directly reflect pre-reprogramming and post-reprogramming mutagenic processes. BCOR mutations are recurrent and have functional consequences for the differentiation capacity of iPSCs.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Epigenetic regulation and factors that influence the effect of iPSCs-derived neural stem/progenitor cells (NS/PCs) in the treatment of spinal cord injury
Clinical Epigenetics Open Access 21 February 2024
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Takahashi, K. & Yamanaka, S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126, 663–676 (2006). The original paper describing the groundbreaking technique of reprogramming somatic cells into iPSCs.
Rowe, R. G. & Daley, G. Q. Induced pluripotent stem cells in disease modelling and drug discovery. Nat. Rev. Genet. 20, 377–388 (2019). A Review article on the potential applications and uses of iPSCs.
D’Antonio, M. et al. Insights into the mutational burden of human induced pluripotent stem cells from an integrative multi-omics approach. Cell Rep. 24, 883–894 (2018). A paper reporting on whole-genome sequence analysis of 18 hiPSC lines, demonstrating widespread somatic mutations and copy-number alterations.
Kilpinen, H. et al. Common genetic variation drives molecular heterogeneity in human iPSCs. Nature 546, 370–375 (2017). A paper reporting on the genotyping, using copy-number alterations, and phenotyping of hiPSCs from HipSci.
Zou, X. et al. A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage. Nat. Cancer 2, 643–657 (2021). A paper describing the mutational signatures of hiPSCs with knockout of genes encoding DNA-repair molecules.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This is a summary of: Rouhani, F. J. et al. Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells. Nat. Genet. https://doi.org/10.1038/s41588-022-01147-3 (2022).
Rights and permissions
About this article
Cite this article
Large-scale genomic analysis of human iPSCs identifies recurrent somatic driver mutations. Nat Genet 54, 1271–1272 (2022). https://doi.org/10.1038/s41588-022-01169-x
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41588-022-01169-x
