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 Jun:77:103424. doi: 10.1016/j.scr.2024.103424. Epub 2024 Apr 21.

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.

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.

Publication types

Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

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

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

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Abstract

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