Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology
Summary
Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation inthe PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line. This mutation mirrors that found in a previously reportedRP patient-derived iPSC line (CSUASOi006-A) from our group. Establishing the PRPF8 gene mutation cell line (CSUASOi012-A-2) provides a valuable cellular resource for studying the pathogenesis of RP. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Chen H, Liang Y, Chen Y, Liang Y, Li X, Duan C, Cui Z, Gu J, Ding C, Sun X, Chen J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Feb 24;84:103689 |
| PubMed | 40022903 |
| DOI | 10.1016/j.scr.2025.103689 |