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

[摘要] 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.

[学科分类] 生理学