Applying Patient-Specific Induced Pluripotent Stem Cells to Create a Model of Hypertrophic Cardiomyopathy

被引：0
作者：
E. V. Dementyeva
S. P. Medvedev
V. R. Kovalenko
Yu. V. Vyatkin
E. I. Kretov
M. M. Slotvitsky
D. N. Shtokalo
E. A. Pokushalov
S. M. Zakian
机构：
[1] Siberian Branch of the Russian Academy of Sciences,Federal Research Center Institute of Cytology and Genetics
[2] Ministry of Health of Russian Federation,Meshalkin National Medical Research Center
[3] Siberian Branch of the Russian Academy of Sciences,Institute of Chemical Biology and Fundamental Medicine
[4] Novosibirsk State University,undefined
[5] Novel Software Systems Ltd,undefined
[6] Moscow Institute of Physics and Technology,undefined
[7] A. P. Ershov Institute of Informatics Systems,undefined
来源：
Biochemistry (Moscow) | 2019年 / 84卷
关键词：
induced pluripotent stem cells; human disease models; hypertrophic cardiomyopathy; cardiomyocytes;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Generation of patient-specific induced pluripotent stem cells (iPSCs) and their subsequent differentiation into cardiomyocytes opened new opportunities for studying pathogenesis of inherited cardiovascular diseases. One of these diseases is hypertrophic cardiomyopathy (HCM) for which no efficient therapy methods have been developed so far. In this study, the approach based on patient-specific iPSCs was applied to create a model of the disease. Genetic analysis of a hypertrophic cardiomyopathy patient revealed R326Q mutation in the MYBPC3 gene. iPSCs of the patient were generated and characterized. The cells were differentiated into cardiomyocytes together with the control iPSCs from a healthy donor. The patient’s iPSC-derived cardiomyocytes exhibited early HCM features, such as abnormal calcium handling and increased intracellular calcium concentration. Therefore, cardiomyocytes obtained by directed differentiation of iPSCs from the HCM patient can be used as a model system to study HCM pathogenesis.
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页码：291 / 298
页数：7
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