The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells

Peter W. Andrews, Ivana Barbaric, Nissim Benvenisty, Jonathan S. Draper, Tenneille Ludwig, Florian T. Merkle, Yoji Sato, Claudia Spits, Glyn N. Stacey, Haoyi Wang, Martin F. Pera*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

15 Scopus citations


It is well established that human pluripotent stem cells (hPSCs) can acquire genetic and epigenetic changes during culture in vitro. Given the increasing use of hPSCs in research and therapy and the vast expansion in the number of hPSC lines available for researchers, the International Society for Stem Cell Research has recognized the need to reassess quality control standards for ensuring the genetic integrity of hPSCs. Here, we summarize current knowledge of the nature of recurrent genetic and epigenetic variants in hPSC culture, the methods for their detection, and what is known concerning their effects on cell behavior in vitro or in vivo. We argue that the potential consequences of low-level contamination of cell therapy products with cells bearing oncogenic variants are essentially unknown at present. We highlight the key challenges facing the field with particular reference to safety assessment of hPSC-derived cellular therapeutics.

Original languageAmerican English
Pages (from-to)1624-1636
Number of pages13
JournalCell Stem Cell
Issue number12
StatePublished - 1 Dec 2022

Bibliographical note

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© 2022 Elsevier Inc.


  • cell therapy
  • disease modeling
  • genetic integrity
  • human pluripotent stem cell
  • safety assessment
  • tumor formation


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