Demonstrates the creation of a unique iPSC line to investigate PRPF31-related retinal disorders in a Chinese patient, suggesting new avenues for research.
Retinitis pigmentosa (RP) is a group of inherited retinal degenerative disorders characterized by progressive visual dysfunction. In this study, we generated an induced pluripotent stem cell (iPSC) line, CSUASOi014-A, from peripheral blood cells of a 40-year-old Chinese female patient clinically diagnosed with RP. Peripheral blood mononuclear cells were isolated and reprogrammed using an integration-free Sendai virus system. The established iPSC line harbors a heterozygous PRPF31 c.528-39_531del mutation. CSUASOi014-A provides a patient-specific cellular resource for studying the pathogenic mechanisms underlying PRPF31-associated RP.
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Liang et al. (2026) studied this question.
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