Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology

• Published in: Stem cell research Vol. 84; p. 103689
• Main Authors: Chen, Hang, Liang, Yuqin, Chen, Yuexi, Liang, Yuan, Li, Xiaoxue, Duan, Chunwen, Cui, Zekai, Gu, Jianing, Ding, Chengcheng, Sun, Xihao, Chen, Jiansu
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2025; Elsevier
• Subjects: Cell Line; CRISPR-Cas Systems - genetics; Heterozygote; Humans; Induced Pluripotent Stem Cells - cytology; Induced Pluripotent Stem Cells - metabolism; Mutation; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - metabolism; Retinitis Pigmentosa - pathology
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2025.103689

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.