Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

In the last few decades, many pathogenic or likely pathogenic genetic mutations in over hundred different genes have been described for non-ischemic, genetic cardiomyopathies. However, the functional knowledge about most of these mutations is still limited because the generation of adequate animal m...

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Bibliographic Details
Published in:International journal of molecular sciences 2019-09, Vol.20 (18), p.4381
Main Authors: Brodehl, Andreas, Ebbinghaus, Hans, Deutsch, Marcus-André, Gummert, Jan, Gärtner, Anna, Ratnavadivel, Sandra, Milting, Hendrik
Format: Article
Language:English
Subjects:
Animals
Biomarkers
Cardiomyocytes
Cardiomyopathies - diagnosis
Cardiomyopathies - genetics
Cardiomyopathies - metabolism
Cell Differentiation - genetics
Cellular Reprogramming - genetics
CRISPR
Diabetes
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Induced Pluripotent Stem Cells - cytology
Induced Pluripotent Stem Cells - metabolism
Muscular dystrophy
Mutation
Myocytes, Cardiac - cytology
Myocytes, Cardiac - metabolism
Review
Stem cells
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Summary:In the last few decades, many pathogenic or likely pathogenic genetic mutations in over hundred different genes have been described for non-ischemic, genetic cardiomyopathies. However, the functional knowledge about most of these mutations is still limited because the generation of adequate animal models is time-consuming and challenging. Therefore, human induced pluripotent stem cells (iPSCs) carrying specific cardiomyopathy-associated mutations are a promising alternative. Since the original discovery that pluripotency can be artificially induced by the expression of different transcription factors, various patient-specific-induced pluripotent stem cell lines have been generated to model non-ischemic, genetic cardiomyopathies in vitro. In this review, we describe the genetic landscape of non-ischemic, genetic cardiomyopathies and give an overview about different human iPSC lines, which have been developed for the disease modeling of inherited cardiomyopathies. We summarize different methods and protocols for the general differentiation of human iPSCs into cardiomyocytes. In addition, we describe methods and technologies to investigate functionally human iPSC-derived cardiomyocytes. Furthermore, we summarize novel genome editing approaches for the genetic manipulation of human iPSCs. This review provides an overview about the genetic landscape of inherited cardiomyopathies with a focus on iPSC technology, which might be of interest for clinicians and basic scientists interested in genetic cardiomyopathies.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms20184381