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

Stem Cell Research (Mar 2022)

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

Affiliations

Xiaoxu Han: 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
Shijing Wu: 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
Zixi Sun: 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
Tian Zhu: 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
Xing Wei: 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
Xuan Zou: 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
Ruifang Sui: Corresponding author at: Department of Ophthalmology, Peking Union Medical College Hospital, 1 Shuai Fu Yuan, Beijing 100730, China.; 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

Journal volume & issue: Vol. 59
p. 102661

Abstract

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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.

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

About the journal