Generation of iPSC line CSUASOi015-A from peripheral blood mononuclear cells of an autosomal dominant retinitis pigmentosa patient with a heterozygous deletion of exons 2-8 in PRPF31
Summary
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. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Liang Y, Ding C, Liang Y, Chen H, Duan C, Gu J, Cui Z, Sun X, Chen J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Aug;94:104019 |
| PubMed | 42248116 |
| DOI | 10.1016/j.scr.2026.104019 |