期刊
STEM CELL RESEARCH
卷 28, 期 -, 页码 16-20出版社
ELSEVIER
DOI: 10.1016/j.scr.2018.01.023
关键词
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资金
- Instituto de Salud Carlos III [PI17/0054]
- Spanish Research Network on Cerebrovascular Diseases RETICS-INVICTUS [RD12/0014]
- Ministry of Economy and Competitiveness of Spain [SAF2014-56336-R]
- Xunta de Galicia (Conselleria Educacion) [GRC2014/027]
- European Union program FEDER
- Miguel Servet Program of Instituto de Salud Carlos III [CP14/00154, CP12/03121, CPII17/00027]
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. (c) 2018 The Authors. Published by Elsevier B.V.
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