Generation of a human-induced pluripotent stem cell line from a retinitis pigmentosa patient carrying biallelic mutations in EYS gene.

Retinitis pigmentosa (RP) is a hereditary retinal disorder characterized by progressive degeneration of photoreceptor cells in the retina, leading to gradual vision loss. Symptoms of RP typically begin with night blindness and progressive loss of peripheral vision, eventually leading to severe tunnel vision and, in advanced stages, loss of central vision or complete blindness. To date, no effective therapeutic strategies have been developed to halt disease progression, mitigate vision loss, or achieve a complete cure, and currently available disease models have limitations in fully recapitulating the human disease phenotype. In this study, we generated a human induced pluripotent stem cell (hiPSC) line, CUKi001-A, from fibroblasts of a 20-year-old male patient with EYS-associated RP using lentiviral delivery of reprogramming factors OCT4, SOX2, KLF4, and c-MYC. The CUKi001-A iPSC line carried heterozygous missense mutations in exon 16 (c.2528G > A, p.G843E) and exon 37 (c.7382 T > C, p.L2461S) of the EYS gene, consistent with its parental fibroblasts. The established iPSC line exhibited typical iPSC morphology, a normal karyotype, expression of key pluripotency markers, and the ability to differentiate into derivatives of all three germ layers. The hiPSC line established in this study provides a valuable platform for investigating the pathogenic mechanisms of EYS-associated RP and for developing potential therapeutic strategies.