Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology
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.
Authors
- Xihao Sun (ORCID: https://orcid.org/0000-0002-3470-2006)
- Jiansu Chen (ORCID: https://orcid.org/0000-0001-7332-8427)
- Yuqin Liang (ORCID: https://orcid.org/0000-0002-2448-4746)
- Zekai Cui (ORCID: https://orcid.org/0000-0003-3670-6219)
- Yuexi Chen (ORCID: https://orcid.org/0000-0001-8720-5516)
- Yuan Liang (ORCID: https://orcid.org/0000-0002-9143-9670)
- Xiaoxue Li (ORCID: https://orcid.org/0000-0003-0004-9528)
- Hang Chen (ORCID: https://orcid.org/0000-0002-6356-3930)
- Jianing Gu (ORCID: https://orcid.org/0000-0003-2241-5533)
- Chengcheng Ding
- Chunwen Duan
Institutions
- Central South University (CN)
- Shandong Eye Hospital (CN)
- Xiangya Hospital Central South University (CN)
- First Affiliated Hospital of Jinan University (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-02-24
- DOI
- https://doi.org/10.1016/j.scr.2025.103689
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province
- Changsha Science and Technology Project