Generation of a Junctophilin-2 homozygous knockout human embryonic stem cell line (WAe009-A-36) by an episomal vector-based CRISPR/Cas9 system

Fujian Wu; Xiaowei Li; Rui Bai; Ya'nan Li; Jian Gao; Feng Lan

Stem Cell Research (Oct 2020)

Generation of a Junctophilin-2 homozygous knockout human embryonic stem cell line (WAe009-A-36) by an episomal vector-based CRISPR/Cas9 system

Fujian Wu,
Xiaowei Li,
Rui Bai,
Ya'nan Li,
Jian Gao,
Feng Lan

Affiliations

Fujian Wu: Beijing Laboratory for Cardiovascular Precision Medicine, MOE Key Laboratory of Medical Engineering for Cardiovascular Diseases, MOE Key Laboratory of Remodeling‐Related Cardiovascular Disease, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China
Xiaowei Li: Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Rui Bai: Beijing Laboratory for Cardiovascular Precision Medicine, MOE Key Laboratory of Medical Engineering for Cardiovascular Diseases, MOE Key Laboratory of Remodeling‐Related Cardiovascular Disease, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China
Ya'nan Li: Beijing Laboratory for Cardiovascular Precision Medicine, MOE Key Laboratory of Medical Engineering for Cardiovascular Diseases, MOE Key Laboratory of Remodeling‐Related Cardiovascular Disease, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China
Jian Gao: University of British Columbia, Vancouver, Canada
Feng Lan: Beijing Laboratory for Cardiovascular Precision Medicine, MOE Key Laboratory of Medical Engineering for Cardiovascular Diseases, MOE Key Laboratory of Remodeling‐Related Cardiovascular Disease, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China; Corresponding author at: Research Institute Building, Room 319, Beijing Anzhen Hospital, 2 Anzhen Road, Chaoyang District, Beijing 100029, China.

Journal volume & issue: Vol. 48
p. 101930

Abstract

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Mutations in Junctophilin-2(JPH2) gene is the cause of hypertrophic cardiomyopathy (HCM) and leading inherited cause of left ventricular hypertrophy and myofilaments disarray. JPH2 protein, a member of the Junctophilin family, is mainly expressed in heart and plays an important role in E-C coupling. We have generated a homozygous JPH2 knockout (JPH2-KO) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system. This JPH2-KO hESC line maintained stem cell like morphology, pluripotency, normal karyotype and could differentiate into all three germ layers in vivo.

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

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