Department of Obstetrics, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200091, People's Republic of China.
Shanghai Gemple Biotech Co., Ltd., Shanghai 201210, People's Republic of China.
Stem Cell Res. 2021 May;53:102367. doi: 10.1016/j.scr.2021.102367. Epub 2021 Apr 27.
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.
1 型早发性婴儿癫痫性脑病（EIEE1）是一种严重的早发性癫痫性脑病，其发病机制是由于 ARX 基因突变导致智力运动发育停滞，该基因编码基本脑发育过程中的转录因子。通过非整合性附加体载体技术，从 7 岁男性 EIEE1 患者的外周血单核细胞（PBMC）中生成了一个人诱导多能干细胞（iPSC）系，命名为 OGHFUi001-A。该患者 ARX 基因存在半合子突变（c.989G>T：p.R330L）。OGHFUi001-A 为研究 EIEE1 的致病机制提供了有用的细胞资源，也是用于开发 EIEE1 治疗药物的细胞模型。
