Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls

从三名患有 SSADH 缺乏症的个体和 CRISPR 校正的同基因对照中生成并表征六种人类诱导性多能干细胞系 (hiPSC)

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作者:Wardiya Afshar-Saber, Cidi Chen, Nicole A Teaney, Kristina Kim, Ziqin Yang, Federico M Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D Buttermore, Ivy Pin-Fang Chen, Phillip L Pearl, Mustafa Sahin

Abstract

Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced pluripotent stem cells (hiPSCs) derived from fibroblasts of three unrelated SSADHD patients - one female and two males with the CRISPR-corrected isogenic controls. These individuals are clinically diagnosed and are being followed in a longitudinal clinical study.

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