DGKG突变癫痫患者诱导多能干细胞系LZUSHI001-A的建立
Generation of an integration-free induced pluripotent stem cell line (LZUSHI001-A) from an epileptic patient with DGKG mutation
Ya-Qing Liu, Tiao-Wen Ling, Hong-Yan Wang, Yan-Hong Yang, Wen-jun Song, Tian-Cheng Wang
Journal：Stem Cell Research
IF：1.59
DOI：10.1016/j.scr.2022.102768
PMID：35421845
Published：2022-03-28
research field：
Abstract
Epilepsy is a common chronic neurological disorder related to genetic factors. Base on the non-integrating episomal vector technique, a human induced pluripotent stem cell (iPSC) line, termed as LZUSHI001-A, was generated from peripheral blood mononuclear cells (PBMCs) of a 11-year-old male patient with Epilepsy, who had a heterozygous (c.2042G>A, p.R681Q) mutation in the DGKG gene. LZUSHI001-A offers a useful resource to investigate pathogenic mechanisms in epilepsy, as well as a cell-based model for drug development to treat epilepsy.
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