Generation of an induced pluripotent stem cell line (OGHFUi001-A) from a type 1 early infantile epileptic encephalopathy with ARX mutation
Nan Jia, Xiaohui Gong, Jun Chen, Tong Yang, Chunxiao Bao, Jie Shen, Xirong Xiao
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102367
PMID：34087996
Published：2021-04-27
research field：血管生物学生物材料科学生物医学工程组织工程
Abstract
Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early-onset epileptic encephalopathy with arrest of psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes. A human induced pluripotent stem cell (iPSC) line, termed as OGHFUi001-A, was generated using non-integrating episomal vector technique from peripheral blood mononuclear cells (PBMCs) of a 7-year-old male EIEE1 patient, who had a hemizygous (c.989G > T: p.R330L) mutation in the ARX gene. OGHFUi001-A offers a useful cell resource to investigate pathogenic mechanisms in EIEE1, as well as a cell-based model for drug development for EIEE1.
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