Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation


Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder. It is caused by mutations in NOTCH3 that lead to progressive degeneration of the smooth muscle cells in blood vessels. There is currently no treatment for this disorder. We reprogrammed to pluripotency blood mononuclear cells isolated from a patient carrying a NOTCH3 mutation by using a commercially available non-integrating system. The success in the generation of this iPSC line (IDISi001-A) suggests that the NOTCH3 mutation did not limit cell reprogramming and offers an unprecedented opportunity for studying and modeling CADASIL pathology. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Fernández-Susavila H, Mora C, Aramburu-Núñez M, Quintas-Rey R, Arias S, Collado M, López-Arias E, Sobrino T, Castillo J, Dell'Era P, Campos F
Journal Stem cell research
Publication Date 2018 Apr;28:16-20
PubMed 29414412
DOI 10.1016/j.scr.2018.01.023

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