Generation of induced pluripotent stem cells from a schizophrenia patient with heterozygous 1q21.1 deletion

Stem Cell Res. 2024 Dec:81:103555. doi: 10.1016/j.scr.2024.103555. Epub 2024 Sep 12.

Abstract

1q21.1 deletion has been identified as a risk factor related to not only mental disorders such as schizophrenia, but also congenital heart defects. However, at human cellular and molecular levels, it is still not known how this variant affects brain and heart development and contributes to the onset of these diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a patient with 1q21.1 deletion. The iPSCs expressed stemness markers and exhibited the ability to differentiate into three germ layers in vitro. These iPSCs will be useful tools to understand the pathophysiology of mental disorders and heart defects in humans.

MeSH terms

  • Cell Differentiation
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1* / genetics
  • Female
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Male
  • Schizophrenia* / genetics
  • Schizophrenia* / metabolism
  • Schizophrenia* / pathology