Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant
Summary
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. Published by Elsevier B.V.
| Authors | Li Z, Yousaf S, Guan B, Naik A, Villasmil R, Oh RS, Liau G, Fufa TD, Huryn LA, Hufnagel RB |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep;87:103766 |
| PubMed | 40738073 |
| PubMed Central | PMC12456368 |
| DOI | 10.1016/j.scr.2025.103766 |