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 i...

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Veröffentlicht in:Stem cell research 2024-12, Vol.81, p.103581, Article 103581
Hauptverfasser: Liang, Yuqin, Sun, Xihao, Chen, Hang, Cui, Zekai, Gu, Jianing, Duan, Chunwen, Mao, Shengru, Chen, Yuexi, Li, Xiaoxue, Xiong, Siqi, Chen, Jiansu
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103581