Autor: |
Eltahir Ali, Rosalba Monica Ferraro, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Valentina Serpieri, Enza Maria Valente, Lucio Giordano, Silvia Clara Giliani |
Jazyk: |
angličtina |
Rok vydání: |
2020 |
Předmět: |
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Zdroj: |
Stem Cell Research, Vol 49, Iss , Pp 102007- (2020) |
Druh dokumentu: |
article |
ISSN: |
1873-5061 |
DOI: |
10.1016/j.scr.2020.102007 |
Popis: |
We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro and to develop therapeutic strategies. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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