Autor: |
Manting Xu, Xin Duan, Xiaotun Ren, Zhimei Liu, Shuhua Chen, Fang Fang |
Jazyk: |
angličtina |
Rok vydání: |
2022 |
Předmět: |
|
Zdroj: |
Stem Cell Research, Vol 59, Iss , Pp 102633- (2022) |
Druh dokumentu: |
article |
ISSN: |
1873-5061 |
DOI: |
10.1016/j.scr.2021.102633 |
Popis: |
Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Here, we generated an induced pluripotent stem cell (iPSC) line from the human dermal fibroblasts (HDFs) of an one-year-old boy with EOEE carrying homozygous c.1426G > A mutation in CARS2 gene. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro. |
Databáze: |
Directory of Open Access Journals |
Externí odkaz: |
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