Generation of an integration-free induced pluripotent stem cell line (LZUSHI001-A) from an epileptic patient with DGKG mutation

从患有 DGKG 突变的癫痫患者中生成无整合诱导性多能干细胞系 (LZUSHI001-A)

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作者:Ya-Qing Liu, Tiao-Wen Ling, Hong-Yan Wang, Yan-Hong Yang, Wen-Jun Song, Tian-Cheng Wang

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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