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 tre...

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Published in:Stem cell research 2018-04, Vol.28, p.16-20
Main Authors: Fernández-Susavila, Héctor, Mora, Cristina, Aramburu-Núñez, Marta, Quintas-Rey, Rita, Arias, Susana, Collado, Manuel, López-Arias, Esteban, Sobrino, Tomás, Castillo, José, Dell'Era, Patrizia, Campos, Francisco
Format: Article
Language:English
Subjects:
Aged
Base Sequence
Blood Cells - metabolism
CADASIL - blood
CADASIL - pathology
Cell Culture Techniques - methods
Cell Separation
Humans
Induced Pluripotent Stem Cells - cytology
Male
Mutation - genetics
Receptor, Notch3 - genetics
Reproducibility of Results
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Summary: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. Potential applications of iPSCs generated from CADASIL somatic cells of CADASIL patients. Human iPSCs generated from CADASIL patients will A) facilitate studies of developmental biology of endothelial cells and vascular smooth muscular cells pathologically disrupted in CADASIL; B) yield endothelial and vascular smooth muscular cells for in vitro CADASIL model for drug screening and C) help to establish the therapeutic utility of iPSCs corrected by CRISPR-Cas9 in animal models of CADASIL (e.g., in Notch3−/− mice). [Display omitted]
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2018.01.023