Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | 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 |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103424 |
| PubMed | 38677032 |
| PubMed Central | PMC11178435 |
| DOI | 10.1016/j.scr.2024.103424 |