Concise review: Genomic stability of human induced pluripotent stem cells

Stem Cells. 2012 Jan;30(1):22-7. doi: 10.1002/stem.705.


The usefulness of human induced pluripotent stem cells (hiPSCs) in research and therapeutic applications highly relies on their genomic integrity and stability. Many laboratories including ours have addressed this concern by comparing genomic (at both karyotypic and subkaryotypic levels) and epigenomic abnormalities of hiPSC lines (derived via either DNA- or non-DNA-based methods), as well as human embryonic stem cell lines during long-term culture. A variety of methods have been used for this purpose, such as karyotyping and fluorescent in situ hybridization to detect karyotypic abnormalities, array-based comparative genomic hybridization to detect copy number variations (CNVs), single-nucleotide polymorphism-based microarrays to detect both CNVs and loss of heterozygosity, analysis of integration sites in the genome, and whole genome sequencing for protein-coding exome and DNA methylome profiling. Here, we summarize the progresses in this dynamically evolving field and also discuss how the findings apply to the study and application of hiPSCs.

Publication types

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

MeSH terms

  • Cell Line
  • DNA Copy Number Variations / genetics
  • Embryonic Stem Cells / metabolism
  • Genomic Instability*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Induced Pluripotent Stem Cells / metabolism*
  • Karyotyping
  • Polymorphism, Single Nucleotide / genetics