Stem Cell Research (May 2020)

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

  • Guibin Chen,
  • Zhongwen Li,
  • Yangtengyu Liu,
  • Daniel Chen,
  • Jeanette Beers,
  • Cornelia Cudrici,
  • Elisa A. Ferrante,
  • Robin Schwartzbeck,
  • Natalia Dmitrieva,
  • Dan Yang,
  • Jizhong Zou,
  • M. Luisa Iruela-Arispe,
  • Manfred Boehm

Journal volume & issue
Vol. 45

Abstract

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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.