High prevalence of acquired cancer-related mutations in 146 human pluripotent stem cell lines and their differentiated derivatives

Nat Biotechnol. 2024 Nov;42(11):1667-1671. doi: 10.1038/s41587-023-02090-2. Epub 2024 Jan 9.

Abstract

To survey cancer-related mutations in human pluripotent stem cells and their derivatives, we analyzed >2,200 transcriptomes from 146 independent lines in the NCBI's Sequence Read Archive. Twenty-two per cent of samples had at least one cancer-related mutation; of these, 64% had TP53 mutations, which conferred a pronounced selective advantage, perturbed target gene expression and altered cellular differentiation. These findings underscore the need for robust surveillance of cancer-related mutations in pluripotent cells, especially in clinical applications.

MeSH terms

  • Cell Differentiation* / genetics
  • Cell Line
  • Humans
  • Mutation*
  • Neoplasms* / genetics
  • Neoplasms* / pathology
  • Pluripotent Stem Cells* / metabolism
  • Transcriptome / genetics
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Tumor Suppressor Protein p53