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


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. Published by Elsevier B.V.

Authors Chen G, Li Z, Liu Y, Chen D, Beers J, Cudrici C, Ferrante EA, Schwartzbeck R, Dmitrieva N, Yang D, Zou J, Iruela-Arispe ML, Boehm M
Journal Stem cell research
Publication Date 2020 May;45:101821
PubMed 32344328
PubMed Central PMC7309701
DOI 10.1016/j.scr.2020.101821

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