CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa
PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.
Authors
- Xihao Sun (ORCID: https://orcid.org/0000-0002-3470-2006)
- Yuqin Liang (ORCID: https://orcid.org/0000-0002-2448-4746)
- Zekai Cui (ORCID: https://orcid.org/0000-0003-3670-6219)
- Jiansu Chen (ORCID: https://orcid.org/0000-0001-6703-9573)
- Yuexi Chen (ORCID: https://orcid.org/0000-0001-8720-5516)
- Shengru Mao
- Siqi Xiong (ORCID: https://orcid.org/0000-0002-1281-8198)
- 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)
- Chunwen Duan
Institutions
- Central South University (CN)
- He Eye Hospital (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
- 2024-10-14
- DOI
- https://doi.org/10.1016/j.scr.2024.103581
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China