Human iPSC-derived neurons to investigate subtype-specific alterations in neurodevelopmental disorders: Our progress on SSADH deficiency
Wardiya Afshar Saber, Nicole Teaney, Kellen Winden, Federico Gasparoli, J-B Roullet, Phillip Pearl, Mustafa Sahin · FENS Forum 2024
Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal-recessive neurometabolic disorder caused by bi-allelic mutations in the ALDH5A1 gene. It is the most prevalent inherited disorder of GABA metabolism and is characterized by accumulation of two neuromodulators, gamma-aminobutyric acid (GABA) and gamma-hydroxybutyric acid (GHB), in the CNS. In this study, we used fourteen iPSC lines: three patient lines and sex matched parental controls and CRISPR corrected lines each transduced with hNGN2 and hDLX2-hASCL1 to generate excitatory neurons and GABAergic neurons. We show that hiP
ePoster · Neuroscience