Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.
ABC, active ß-catenin
ACM, arrhythmogenic cardiomyopathy
ASY, asymptomatic
Arrhythmogenic cardiomyopathy
BBB, bundle-branch block
CMs, cardiomyocytes
CTR, control
Cx43, connexin-43
DEGs, differentially expressed genes
GATK, Genome Analysis Toolkit
Human induced pluripotent stem cell derived cardiomyocytes
ICD, implantable cardioverter-defibrillator
ID, intercalated disk
Incomplete penetrance
LBB, left bundle-branch block
MRI, magnetic resonance imagingmut, mutated
NSVT, non-sustained ventricular tachycardia
RV, right ventricle
hiPSC, human induced pluripotent stem cell
wt, wild type
Journal
Computational and structural biotechnology journal
ISSN: 2001-0370
Titre abrégé: Comput Struct Biotechnol J
Pays: Netherlands
ID NLM: 101585369
Informations de publication
Date de publication:
2023
2023
Historique:
received:
14
11
2022
revised:
16
02
2023
accepted:
16
02
2023
entrez:
14
3
2023
pubmed:
15
3
2023
medline:
15
3
2023
Statut:
epublish
Résumé
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 is inherited as an autosomal dominant disease, incomplete penetrance and variable expressivity are extremely common, resulting in different clinical manifestations. Here, we propose hiPSC-CMs as a powerful in vitro model to study incomplete penetrance in ACM. Six hiPSC lines were generated from blood samples of three ACM patients carrying a heterozygous deletion of exon 4 in the
Identifiants
pubmed: 36915380
doi: 10.1016/j.csbj.2023.02.029
pii: S2001-0370(23)00076-4
pmc: PMC10006475
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1759-1773Informations de copyright
© 2023 The Authors.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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