Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes

Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are commonly used to model arrhythmogenic cardiomyopathy (ACM), a heritable cardiac disease characterized by severe ventricular arrhythmias, fibrofatty myocardial replacement and progressive ventricular dysfunction. Although ACM...

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Vydané v:	Computational and structural biotechnology journal Ročník 21; s. 1759 - 1773
Hlavní autori:	De Bortoli, Marzia, Meraviglia, Viviana, Mackova, Katarina, Frommelt, Laura S., König, Eva, Rainer, Johannes, Volani, Chiara, Benzoni, Patrizia, Schlittler, Maja, Cattelan, Giada, Motta, Benedetta M., Volpato, Claudia, Rauhe, Werner, Barbuti, Andrea, Zacchigna, Serena, Pramstaller, Peter P., Rossini, Alessandra
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Netherlands Elsevier B.V 01.01.2023 Research Network of Computational and Structural Biotechnology Elsevier
Predmet:	Arrhythmogenic cardiomyopathy biotechnology blood cardiomyopathy exons family fluorescent antibody technique gene expression regulation heterozygosity Human induced pluripotent stem cell derived cardiomyocytes humans immunoassays Incomplete penetrance lipids mutation penetrance phenotype sarcomeres sodium stem cells Western blotting CTR ABC BBB RV MRI ASY NSVT CMs ACM ICD LBB GATK DEGs Arrhythmogenic cardiomyopathy Cx43 hiPSC Incomplete penetrance ID wt Human induced pluripotent stem cell derived cardiomyocytes GATK, Genome Analysis Toolkit DEGs, differentially expressed genes CTR, control CMs, cardiomyocytes ICD, implantable cardioverter-defibrillator LBB, left bundle-branch block hiPSC, human induced pluripotent stem cell BBB, bundle-branch block RV, right ventricle wt, wild type ACM, arrhythmogenic cardiomyopathy ASY, asymptomatic Cx43, connexin-43 MRI, magnetic resonance imagingmut, mutated NSVT, non-sustained ventricular tachycardia ABC, active ß-catenin ID, intercalated disk
ISSN:	2001-0370, 2001-0370
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