Back to Search Start Over

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

Authors :
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
Source :
Stem Cell Research, Vol 77, Iss , Pp 103424- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
77
Issue :
103424-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.3f29105d885d41a69adcd8bd9288c39b
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2024.103424