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

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

doi:10.1016/j.scr.2024.103424

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

Stem Cell Res. 2024 Apr 21:77:103424. doi: 10.1016/j.scr.2024.103424. Online ahead of print.

Affiliations

¹ FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: wardiya.afsharsaber@childrens.harvard.edu.
² FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
³ FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Department of Cell Biology, Harvard Medical School, Boston, MA, USA.
⁵ FM Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: mustafa.sahin@childrens.harvard.edu.

PMID: 38677032
DOI: 10.1016/j.scr.2024.103424

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.