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March 19, 2026Stem Cell Research0 citationsOpen Access

Establishment of CSUASOi014-A, an induced pluripotent stem cell line from blood-derived cells of a Chinese patient carrying PRPF31 gene mutation

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YLYuan LiangXSXihao SunYLYuqin Liang

Key Points

  • The aim is to create an iPSC line from a patient with a PRPF31 gene mutation to explore its role in retinal degeneration.
  • Isolated peripheral blood mononuclear cells from the patient
  • Reprogrammed cells using an integration-free Sendai virus system
  • Generated the iPSC line CSUASOi014-A containing a PRPF31 mutation
  • Established the CSUASOi014-A iPSC line from blood cells
  • Confirmed the presence of a heterozygous PRPF31 c.528-39_531del mutation
  • Provided a patient-specific resource for studying PRPF31-associated retinitis pigmentosa

Abstract

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. 528-39₅31del mutation. CSUASOi014-A provides a patient-specific cellular resource for studying the pathogenic mechanisms underlying PRPF31-associated RP.

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Cite This Study

Liang et al. (2026) studied this question.

synapsesocial.com/papers/69bb91c7496e729e6297f2f3https://doi.org/10.1016/j.scr.2026.103965
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