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 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. Copyright © 2021. Published by Elsevier B.V.

Authors Xu M, Duan X, Ren X, Liu Z, Chen S, Fang F
Journal Stem cell research
Publication Date 2021 Dec 20;59:102633
PubMed 34953328
DOI 10.1016/j.scr.2021.102633

Research Projects

Cell Lines