Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyop...

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Main Authors: Jingxian Li, Jinxiu Jiang, Lingqun Ye, Zhipeng Lian, Hui Gong, Wei Lei, Yuxiang Dai, Shijun Hu
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124000680
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author Jingxian Li
Jinxiu Jiang
Lingqun Ye
Zhipeng Lian
Hui Gong
Wei Lei
Yuxiang Dai
Shijun Hu
author_facet Jingxian Li
Jinxiu Jiang
Lingqun Ye
Zhipeng Lian
Hui Gong
Wei Lei
Yuxiang Dai
Shijun Hu
author_sort Jingxian Li
collection DOAJ
description Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation.
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spelling doaj.art-774197fe2aad43f7a0b7d7212ce949722024-03-02T04:53:54ZengElsevierStem Cell Research1873-50612024-04-0176103370Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathyJingxian Li0Jinxiu Jiang1Lingqun Ye2Zhipeng Lian3Hui Gong4Wei Lei5Yuxiang Dai6Shijun Hu7Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, ChinaDepartment of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, ChinaDepartment of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, ChinaDepartment of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, ChinaDepartment of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, ChinaDepartment of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China; Corresponding authors at: Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China (W. Lei, S. Hu); Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China (Y. Dai).Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China; National Clinical Research Center for Interventional Medicine, Shanghai 200032, China; Corresponding authors at: Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China (W. Lei, S. Hu); Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China (Y. Dai).Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China; Corresponding authors at: Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China (W. Lei, S. Hu); Department of Cardiology, Zhongshan Hospital, Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China (Y. Dai).Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation.http://www.sciencedirect.com/science/article/pii/S1873506124000680
spellingShingle Jingxian Li
Jinxiu Jiang
Lingqun Ye
Zhipeng Lian
Hui Gong
Wei Lei
Yuxiang Dai
Shijun Hu
Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
Stem Cell Research
title Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
title_full Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
title_fullStr Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
title_full_unstemmed Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
title_short Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
title_sort generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy
url http://www.sciencedirect.com/science/article/pii/S1873506124000680
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