Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation

Xiaoxu Han; Shijing Wu; Zixi Sun; Tian Zhu; Xing Wei; Xuan Zou; Ruifang Sui

doi:10.1016/j.scr.2022.102661

Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation

Stem Cell Res. 2022 Mar:59:102661. doi: 10.1016/j.scr.2022.102661. Epub 2022 Jan 10.

Authors

Xiaoxu Han¹, Shijing Wu¹, Zixi Sun¹, Tian Zhu¹, Xing Wei¹, Xuan Zou¹, Ruifang Sui²

Affiliations

¹ Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
² Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: [email protected].

PMID: 35032821
DOI: 10.1016/j.scr.2022.102661

Abstract

Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We successfully generated a novel human induced pluripotent stem cell (hiPSC) line from a CHM patient with CHM variant using the Sendai-virus based approach. These cells will provide a disease model for further studies on the disease pathogenesis and potential interventions.