| Autor: |
Mengxiao Shen, Shiqi Fan, Fan Wu, Peidi Cheng, Yanyan Gao, Ping Zheng, Shuo Feng, Xinna Ji, Qian Chen, Xue Zhang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 72, Iss , Pp 103195- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2023.103195 |
| Popis: |
The DEPDC5 gene (OMIM 614191) has been proven to be a frequent cause of familial and sporadic focal epilepsy. A human induced pluripotent stem cell (iPSC) line was generated from a child diagnosed with focal epilepsy, which was caused by DEDPC5 mutation. The iPSC line expresses high pluripotency markers, carries the DEDPC5 mutation, and can differentiate into three germ layers in vitro. The iPSC lines offer a promising technique for studying the pathogenesis and conducting drug screening of DEDPC5-related epilepsy. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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