Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

Stem Cell Res. 2024 Oct:80:103517. doi: 10.1016/j.scr.2024.103517. Epub 2024 Jul 30.

Abstract

Induced pluripotent stem cells (iPSCs) were successfully generated from peripheral blood mononuclear cells obtained from two patients with a heterozygous mutation in the CDC42 gene. Both iPSC lines expressed pluripotency markers, differentiated into the three germ layers in vitro, showed normal karyotypes, and retained the disease-causing mutation. Created iPSC lines and their differentiated derivatives may be of interest in the study of the physiology of disease mechanisms and therapy.

MeSH terms

  • Adolescent
  • Cell Differentiation*
  • Child
  • Female
  • Heterozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Male
  • Mutation*
  • cdc42 GTP-Binding Protein* / genetics
  • cdc42 GTP-Binding Protein* / metabolism

Substances

  • cdc42 GTP-Binding Protein
  • CDC42 protein, human