Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant.

ABSTRACT: We have generated four human iPSC lines from skin biopsy-derived fibroblast cells with pathogenic variants in OPA1. Donors have a clinical diagnosis of optic atrophy. Three harbor heterozygous presumed loss-of-function (pLOF) variants, c.1608 + 1_1608 + 6delGTGAGG; c.2873_2876delTTAG; and c.635_636delAA; one patient is compound heterozygous for a nonsense allele c.676C>T p. (Gln226Ter) and a missense modifier allele c.1146A>G p.(Ile382Met). All iPSC lines were reprogrammed using non-integrating Sendai virus techniques and validated with undifferentiated hPSC state markers at RNA and protein level. OPA1 iPSC lines differentiate into retinal ganglion-like cells, providing a useful platform to study pathogenesis and development of cell-based drug screens.

SUBMITTER: Li Z 

PROVIDER: S-EPMC12456368 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature