CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa
oleh: Yuqin Liang, Xihao Sun, Hang Chen, Zekai Cui, Jianing Gu, Chunwen Duan, Shengru Mao, Yuexi Chen, Xiaoxue Li, Siqi Xiong, Jiansu Chen
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2024-12-01 |
Deskripsi
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.