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

来自具有 SSADH 缺乏和 CRISPR 校正的等基因对照的三个个体的六个人诱导多能干细胞系 (hiPSC) 的生成和表征。

• 影响指数: 1.587
• 发表时间: 2024 Jun 21
• 来源期刊: Stem Cell Res
• DOI: 10.1016/j.scr.2024.103424
• PMID: 38677032
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Afshar-Saber W,Chen C,Teaney NA,Kim K,Yang Z,Gasparoli FM,Ebrahimi-Fakhari D,Buttermore ED,Pin-Fang Chen I,Pearl PL,Sahin M

Mesh: Humans; Induced Pluripotent Stem Cells / metabolism; Male; Female; Succinate-Semialdehyde Dehydrogenase / deficiency genetics metabolism; Amino Acid Metabolism, Inborn Errors / genetics pathology; Cell Line; Clustered Regularly Interspaced Short Palindromic Repeats / genetics; CRISPR-Cas Systems; Developmental Disabilities

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.

摘要

琥珀酸半醛脱氢酶缺乏症（SSADHD）是一种超罕见的常染色体隐性遗传神经代谢障碍，由表现为自闭症和癫痫的ALDH5A1突变引起。这里,我们报道了3例无关的SSADHD患者的成纤维细胞来源的人诱导多能干细胞(hiPSCs)的产生和表征,其中1例女性,2例男性,CRISPR校正的同基因对照.这些个体在临床上被诊断并且在纵向临床研究中被跟踪。