| Autor: |
Anna Floriane Hennig, Uta Rössler, Franziska Boiti, Maja von der Hagen, Manfred Gossen, Uwe Kornak, Harald Stachelscheid |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 35, Iss , Pp - (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2018.101367 |
| Popis: |
Autosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c.1208G>A using Sendai viral vectors. The pluripotent identity of the BIHi002-A line was confirmed by their expression of typical markers for undifferentiated hiPSCs, their capacity to differentiate into cells of the three germ layers and by PluriTest analysis. The BIHi002-A line provides a tool for disease modelling and therapy development. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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