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.


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.

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


  • Succinate-Semialdehyde Dehydrogenase

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency