Study generates iPSC line to study pathogenic mechanisms in retinitis pigmentosa, indicating its potential for future therapies.
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease causing progressive visual dysfunction. Here, we generated a human induced pluripotent stem cell (iPSC) line, CSUASOi015-A, from peripheral blood mononuclear cells of a 46-year-old male patient with autosomal dominant RP carrying a heterozygous deletion of exons 2–8 in PRPF31. The established iPSC line retained the donor-specific PRPF31 variant and exhibited normal undifferentiated hPSC state, trilineage differentiation potential, and karyotype. This cell line provides a useful in vitro model for investigating the pathogenic mechanisms of PRPF31-associated RP.
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Liang et al. (2026) studied this question.
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