Generation of human induced pluripotent stem cells (NIHTVBi004-A, NIHTVBi005-A, NIHTVBi006-A, NIHTVBi007-A, NIHTVBi008-A) from 5 CADASIL patients with NOTCH3 mutation

Stem Cell Res. 2020 May:45:101821. doi: 10.1016/j.scr.2020.101821. Epub 2020 Apr 22.

Abstract

We have successfully generated induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells of five patients with Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These cells carry the genetic NOTCH3 mutation present in their parental cells. These iPSC cells exhibited normal karyotype and phenotype, which were sustained through propagation. Furthermore, these iPSCs displayed the capacity of differentiating toward the three germ layers in vitro.

MeSH terms

  • CADASIL* / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Magnetic Resonance Imaging
  • Mutation
  • Phenotype
  • Receptor, Notch3 / genetics
  • Receptors, Notch / genetics

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch