Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

Hong Wen; Lixiang Sun; Jiaqi Zhong; Fujian Wu

Stem Cell Research (Jul 2022)

Establishment of human embryonic stem cell WAe009-A-88 carrying a long QT syndrome mutation in KCNH2

Hong Wen,
Lixiang Sun,
Jiaqi Zhong,
Fujian Wu

Affiliations

Hong Wen: Department of Geriatric Cardiology & Guangxi Key Laboratory of Precision Medicine in Cardio-Cerebrovascular Diseases Control and Prevention & Guangxi Clinical Research Center for Cardio-Cerebrovascular Diseases, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China
Lixiang Sun: Guangxi Key Laboratory of Precision Medicine in Cardio-cerebrovascular Diseases Control and Prevention & Guangxi Clinical Research Center for Cardio-cerebrovascular Diseases, Nanning, Guangxi, China
Jiaqi Zhong: Translational Medicine Collaborative Innovation Center, Shenzhen People’s Hospital(The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College of Jinan University), Shenzhen 518055, Guangdong, China; Guangdong Engineering Technology Research Center of Stem Cell and Cell Therapy, Shenzhen Key Laboratory of Stem Cell Research and Clinical Transformation, Shenzhen Immune Cell Therapy Public Service Platform, Shenzhen 518020, China
Fujian Wu: Translational Medicine Collaborative Innovation Center, Shenzhen People’s Hospital(The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College of Jinan University), Shenzhen 518055, Guangdong, China; Guangdong Engineering Technology Research Center of Stem Cell and Cell Therapy, Shenzhen Key Laboratory of Stem Cell Research and Clinical Transformation, Shenzhen Immune Cell Therapy Public Service Platform, Shenzhen 518020, China; Corresponding author at: Translational Medicine Collaborative Innovation Center, Shenzhen People’s Hospital (The First Affiliated Hospital, Southern University of Science and Technology, The Second Clinical Medical College of Jinan University), Shenzhen, 518055, Guangdong, China.

Journal volume & issue: Vol. 62
p. 102795

Abstract

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Long-QT syndrome type 2 (LQT2) is a life-threatening Mendelian disease caused by genetic variants in KCNH2. Herein, we generated a human embryonic stem cell line (WAe009-A-88) carrying a LQT2 related mutation in KCNH2, c.1720 A>G. The WAe009-A-88 line maintained stem cell-like morphology, expressed high levels of pluripotent markers, had a normal karyotype, and could differentiate into all three germ layers in vivo. The cell line can serve as valuable tools for modeling LQT2 in vitro and investigating the pathological mechanisms related to KCNH2 mutations.

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