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

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 fibr...

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Veröffentlicht in:Stem cell research 2024-06, Vol.77, p.103424-103424, Article 103424
Hauptverfasser: Afshar-Saber, Wardiya, Chen, Cidi, Teaney, Nicole A., Kim, Kristina, Yang, Ziqin, Gasparoli, Federico M., Ebrahimi-Fakhari, Darius, Buttermore, Elizabeth D., Pin-Fang Chen, Ivy, Pearl, Phillip L., Sahin, Mustafa
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103424