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CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa.

Stem cell research - 1 Dec 2024

Liang Yuqin, Sun Xihao, Chen Hang, Cui Zekai, Gu Jianing, Duan Chunwen, Mao Shengru, Chen Yuexi, Li Xiaoxue, Xiong Siqi, Chen Jiansu

Abstract excerpt

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,...

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PMID: 39423676
DOI: 10.1016/j.scr.2024.103581

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CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa.PMID 39423676Read ↗

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Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.Semantic proximity Read ↗

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A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).Semantic proximity Read ↗

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