Genomic Stability Testing of Pluripotent Stem Cells

Curr Protoc Stem Cell Biol. 2020 Mar;52(1):e107. doi: 10.1002/cpsc.107.


Pluripotent stem cell (PSC) cultures are subjected to selective pressures that can result in acquisition and expansion of recurrent genetic abnormalities at any time. These recurrent abnormalities enhance the variant cells harboring them with a competitive advantage over wild-type cells. Variant cells can eventually supplant wild-type cells entirely and become fixed in culture. Such variants can impact the efficacy of PSCs in research and clinical applications. Therefore, routine genomic characterization is required for reliable and effective use of PSCs. In this article we describe the capabilities and limitations of several assays commonly used for assessing PSC genomic stability. Based on this analysis, we provide a recommendation for integrating assays into a comprehensive testing regimen that maximizes coverage while minimizing cost. © 2020 by John Wiley & Sons, Inc.

Keywords: G-banded karyotyping; chromosomal microarray; cytogenomics; fluorescence in situ hybridization; next-generation sequencing; quantitative polymerase chain reaction; recurrent acquired genetic abnormalities.

Publication types

  • Review

MeSH terms

  • Animals
  • Biological Assay
  • Genetic Techniques
  • Genomic Instability*
  • Humans
  • Pluripotent Stem Cells / metabolism*