Epigenetic aberrations in human pluripotent stem cells

Shiran Bar, Nissim Benvenisty*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

64 Scopus citations


Human pluripotent stem cells (hPSCs) are being increasingly utilized worldwide in investigating human development, and modeling and discovering therapies for a wide range of diseases as well as a source for cellular therapy. Yet, since the first isolation of human embryonic stem cells (hESCs) 20 years ago, followed by the successful reprogramming of human-induced pluripotent stem cells (hiPSCs) 10 years later, various studies shed light on abnormalities that sometimes accumulate in these cells in vitro. Whereas genetic aberrations are well documented, epigenetic alterations are not as thoroughly discussed. In this review, we highlight frequent epigenetic aberrations found in hPSCs, including alterations in DNA methylation patterns, parental imprinting, and X chromosome inactivation. We discuss the potential origins of these abnormalities in hESCs and hiPSCs, survey the different methods for detecting them, and elaborate on their potential consequences for the different utilities of hPSCs.

Original languageAmerican English
Article numbere101033
JournalEMBO Journal
Issue number12
StatePublished - 17 Jun 2019

Bibliographical note

Publisher Copyright:
© 2019 The Authors


  • DNA methylation
  • X chromosome inactivation
  • epigenetic alterations
  • human pluripotent stem cells
  • imprinting


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