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 |