| Autor: |
Héctor Fernández-Susavila, Cristina Mora, Marta Aramburu-Núñez, Rita Quintas-Rey, Susana Arias, Manuel Collado, Esteban López-Arias, Tomás Sobrino, José Castillo, Patrizia Dell'Era, Francisco Campos |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 28, Iss , Pp 16-20 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2018.01.023 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
