Generation and characterization of induced pluripotent stem cells from breast cancer patients carrying ATM mutations

Stem Cell Res. 2023 Dec:73:103246. doi: 10.1016/j.scr.2023.103246. Epub 2023 Nov 6.

Abstract

We generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of breast cancer patients carrying germline ATM mutations, a gene associated with a 7% prevalence in breast cancer. These iPSC lines displayed typical morphology, expressed pluripotency markers, maintained a stable karyotype, and retained the ability to differentiate into the three germ layers. These patient-specific iPSC lines hold great potential for mechanistic investigations and the development of drug screening strategies aimed at addressing ATM-related cancer.

MeSH terms

  • Ataxia Telangiectasia Mutated Proteins / genetics
  • Breast Neoplasms* / genetics
  • Female
  • Germ-Line Mutation
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Mutation / genetics

Substances

  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins