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Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

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...

Whakaahuatanga katoa

I tiakina i:
Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua: Manting Xu, Xin Duan, Xiaotun Ren, Zhimei Liu, Shuhua Chen, Fang Fang
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2022-03-01
Rangatū:Stem Cell Research
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S1873506121004803
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