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Modeling of Human Cardiomyopathy with Induced Pluripotent Stem Cells

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Human inherited cardiomyopathies are one of the major etiologies for heart failure which are associated with significant mortality and morbidity. Unfortunately, there are lack of effective specific therapies for human cardiomyopathies due to the limited understanding on their pathophysiology. Currently, most of the mechanistic studies of human cardiomyopathy are based on transgenic mouse models and invasive collection of limited amount of myocardial biopsy specimen. Disease-specific stem-cells are already available for studying single-gene mutation related diseases, such as cystic fibrosis and fragile X syndrome. The possibility of obtaining stem-cells using induced pluripotent stem cell (iPSC) technology provides the opportunity to generate stem cells carrying an inherited disease phenotype that will then serve as an invaluable model to study the disease biology and treatment of human cardiomyopathies. Here, we review the major strategies and workflow of using the patient-specific iPSCs derived cardiomyocytes to model inherited human cardiomyopathies. The creation of patient-specific iPSC lines in patients with hypertrophic cardiomyopathy and dilated cardiomyopathy have been reported and served as important human models of inherited diseases to improve our understanding of the disease mechanisms and enable drug screening.
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Document Type: Review Article

Publication date: October 1, 2014

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  • Journal of Biomedical Nanotechnology (JBN) is a peer-reviewed multidisciplinary journal providing broad coverage in all research areas focused on the applications of nanotechnology in medicine, drug delivery systems, infectious disease, biomedical sciences, biotechnology, and all other related fields of life sciences.
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