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

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

Stem Cell Research (Dec 2024)

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

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

Affiliations

Yuqin Liang: Aier Eye Institute, Changsha 410015, China; Eye Center of Xiangya Hospital, Central South University, Changsha 410008, China
Xihao Sun: Aier Eye Institute, Changsha 410015, China; Eye Center of Xiangya Hospital, Central South University, Changsha 410008, China
Hang Chen: Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou 510632, China
Zekai Cui: Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China
Jianing Gu: Aier Eye Institute, Changsha 410015, China
Chunwen Duan: Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China
Shengru Mao: Aier Eye Institute, Changsha 410015, China
Yuexi Chen: Aier Eye Hospital, Jinan University, Guangzhou 510632, China
Xiaoxue Li: Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China
Siqi Xiong: Eye Center of Xiangya Hospital, Central South University, Changsha 410008, China; Corresponding author.
Jiansu Chen: Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China; Aier Eye Hospital, Jinan University, Guangzhou 510632, China; Corresponding author at: Aier Eye Institute, Changsha 410015, China.

Journal volume & issue: Vol. 81
p. 103581

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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