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

Bibliographic Details
Title: CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa
Authors: Yuqin Liang, Xihao Sun, Hang Chen, Zekai Cui, Jianing Gu, Chunwen Duan, Shengru Mao, Yuexi Chen, Xiaoxue Li, Siqi Xiong, Jiansu Chen
Source: Stem Cell Research, Vol 81, Iss , Pp 103581- (2024)
Publisher Information: Elsevier, 2024.
Publication Year: 2024
Collection: LCC:Biology (General)
Subject Terms: Biology (General), QH301-705.5
More Details: 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1873-5061
Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002794; https://doaj.org/toc/1873-5061
DOI: 10.1016/j.scr.2024.103581
Access URL: https://doaj.org/article/dc87879268074a2e9f7c80185c8dc2f0
Accession Number: edsdoj.87879268074a2e9f7c80185c8dc2f0
Database: Directory of Open Access Journals
More Details
ISSN:18735061
DOI:10.1016/j.scr.2024.103581
Published in:Stem Cell Research
Language:English