Generation of two induced pluripotent stem cell lines (FAMRCi005-A and FAMRCi005-B) from patient carrying genetic variant LMNA p.Asp357Val.

Publication date: Available online 5 February 2020Source: Stem Cell ResearchAuthor(s): Polina Klauzen, Kseniya Perepelina, Aleksandr Khudiakov, Anna Zlotina, Yulia Fomicheva, Tatiana Pervunina, Tatiana Vershinina, Anna Kostareva, Anna MalashichevaAbstractLMNA mutations are often linked to laminopathies characterized by tissue-specific disorders. We generated two induced pluripotent stem cells lines from patient carrying genetic variant LMNA p.Asp357Val associated with paroxysmal ventricular tachycardia and myopathy. Reprogramming of patient's peripheral blood mononuclear cells was performed using Sendai viruses. Characterization of the FAMRCi005-A and FAMRCi005-B lines revealed that generated iPSC lines expressed pluripotent stem cell markers, had normal karyotype and demonstrated triliniage differentiation ability. Generated cell lines can be used to investigate the molecular links between LMNA genetic variants and cardiac disorders.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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In conclusion, ivabradine does not exhibit anti-arrhythmic properties in CPVT, which indicates that this blocker cannot be used as a plausible treatment for CPVT ventricular arrhythmias.
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
älä K Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterized by arrhythmias under adrenergic stress. Mutations in the cardiac ryanodine receptor (RYR2) are the leading cause for CPVT. We characterized electrophysiological properties of CPVT patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) carrying different mutations in RYR2 and evaluated effects of carvedilol and flecainide on action potential (AP) and contractile properties of hiPSC-CMs. iPSC-CMs were generated from skin biopsies of CPVT patients carrying exon...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
Increased nuclear β-catenin interacting with T-cell factor 4 (TCF4) affects the expression of target genes including SCN5A in ischemic heart disease, which is characterized by frequent ventricular tachycardia/fibrillation. A complex of β-catenin and TCF4 inhibits cardiac Na+ channel activity by reducing NaV1.5 expr ession through suppressing SCN5A promoter activity in HL-1 cardiomyocytes. LF3, a 4-thioureido-benzenesulfonamide derivative and an inhibitor of β-catenin/TCF4 interaction, has been shown to block the self-renewal capacity of cancer stem cells.
Source: Journal of Molecular and Cellular Cardiology - Category: Cytology Authors: Source Type: research
Publication date: Available online 24 July 2019Source: Stem Cell ResearchAuthor(s): Yanmin Zhang, Anmao Li, Christopher L.-H. Huang, Guoxia Wang, Danyin WangAbstractInduced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a 4 month-old boy with catecholaminergic polymorphic ventricular tachycardia carrying the double heterozygous mutations RyR2-A1855D and SCN10A-Q1362H. PBMCs were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and C-MYC. The iPSCs were shown to express pluripotent ...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
CONCLUSIONS: Our study illuminates the molecular and cellular pathogenesis of CPVT and reveals a critical role of CaMKII-dependent reentry in the tissue-scale mechanism of this disease. We anticipate that this approach will be useful to model other inherited and acquired cardiac arrhythmias. PMID: 31311300 [PubMed - as supplied by publisher]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
CONCLUSIONS: This proof-of-concept study showed that AAV-mediated delivery of a CaMKII peptide inhibitor to the heart was effective in suppressing arrhythmias in a murine model of CPVT. CaMKII inhibition also reversed the arrhythmia phenotype in human CPVT iPSC-CMs models with different pathogenic mutations. PMID: 31155924 [PubMed - as supplied by publisher]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
Publication date: Available online 2 May 2019Source: Stem Cell ReportsAuthor(s): Rocco Romagnuolo, Hassan Masoudpour, Andreu Porta-Sánchez, Beiping Qiang, Jennifer Barry, Andrew Laskary, Xiuling Qi, Stéphane Massé, Karl Magtibay, Hiroyuki Kawajiri, Jun Wu, Tamilla Valdman Sadikov, Janet Rothberg, Krishna M. Panchalingam, Emily Titus, Ren-Ke Li, Peter W. Zandstra, Graham A. Wright, Kumaraswamy Nanthakumar, Nilesh R. GhugreSummaryHuman embryonic stem cell-derived cardiomyocytes (hESC-CMs) show considerable promise for regenerating injured hearts, and we therefore tested their capacity to stably engraft i...
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
Publication date: Available online 25 April 2019Source: Stem Cell ResearchAuthor(s): Samantha B. Ross, Mira Holliday, Seakcheng Lim, Christopher SemsarianAbstractCatecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmia syndrome characterized by adrenaline induced ventricular tachycardia. The primary genetic aetiologies underlying CPVT are either autosomal dominant or autosomal recessive inheritance, resulting from heterozygous mutations in cardiac ryanodine receptor (RYR2) and homozygous mutations in cardiac calsequestrin-2 (CASQ2), respectively. Recently, a large family with autosomal dominant CPVT du...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Maximilian Funken1,2, Daniela Malan1, Philipp Sasse1* and Tobias Bruegmann1,3,4,5* 1Institute of Physiology I, Medical Faculty, University of Bonn, Bonn, Germany 2Department of Internal Medicine II, University Hospital Bonn, University of Bonn, Bonn, Germany 3Research Training Group 1873, University of Bonn, Bonn, Germany 4Institute of Cardiovascular Physiology, University Medical Center, Georg-August-University Göttingen, Göttingen, Germany 5DZHK (German Research Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany Cardiac defibrillation to terminate lethal vent...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
ConclusionThis work enabled us to characterize two novel CPVT mutations, providing more insight into functional mechanisms involved in this pathology, and further validating the use of human pluripotent stem cells for investigating complex cardiac rhythm disorders.
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
More News: Genetics | Stem Cell Therapy | Stem Cells | Ventricular Tachycardia