Stem Cell Res. 2026 Jun 1;94:104022. doi: 10.1016/j.scr.2026.104022. Online ahead of print.
ABSTRACT
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment. The disease is caused by pathogenic variants in the Optic Atrophy 1 (OPA1) gene, a member of the guanosine triphosphatase (GTPase) family that plays a central role in mitochondrial fusion and fission, mitophagy regulation, and mitochondrial DNA (mtDNA) maintenance. To model this disorder, we generated and characterized a human induced pluripotent stem cell (hiPSC) line from primary fibroblasts obtained from a patient affected by ADOA syndrome.
PMID:42269329 | DOI:10.1016/j.scr.2026.104022