Epigenetic Aberrations in Human Pluripotent Stem Cells

EMBO J. 2019 Jun 17;38(12):e101033. doi: 10.15252/embj.2018101033. Epub 2019 May 14.


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.

Keywords: DNA methylation; X chromosome inactivation; epigenetic alterations; human pluripotent stem cells; imprinting.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Differentiation / genetics
  • Cellular Reprogramming / genetics
  • DNA Methylation / physiology
  • Epigenesis, Genetic / physiology*
  • Genomic Imprinting / genetics
  • Humans
  • Induced Pluripotent Stem Cells / physiology
  • Pluripotent Stem Cells / physiology*
  • X Chromosome Inactivation / physiology