An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of Long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C

Publication date: Available online 6 February 2020Source: Stem Cell ResearchAuthor(s): Hong-Mei Zhou, Xiao-Qian Zhou, Ji-Zhen Lu, Wen-Wen Jia, Jiu-Hong KangAbstractLong QT syndrome type 8 is an uncommon inherited condition .An induced pluripotent stem cell (iPSC) line was generated from Peripheral blood mononuclear cells (PBMCs) of a 10-year-old patient with heterozygous mutation of p.R858H(c.2573G>A )in the CACNA1C gene. This iPSC model offers a very valuable resource to study the disease pathophysiology and to develop therapeutics for treatment of Long QT syndrome type 8 patients.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

Related Links:

The cardiac ventricular action potential depends on several voltage-gated ion channels, including Nav, Cav, and Kv channels. Mutations in these channels can cause Long QT Syndrome (LQTS) which increases the risk for ventricular fibrillation and sudden cardiac death. Polyunsaturated fatty acids (PUFAs) have emerged as potential therapeutics for LQTS because they are modulators of voltage-gated ion channels. Here we demonstrate that PUFA analogues vary in their selectivity for human voltage-gated ion channels involved in the ventricular action potential. The effects of specific PUFA analogues range from selective for a speci...
Source: eLife - Category: Biomedical Science Tags: Structural Biology and Molecular Biophysics Source Type: research
Abstract BACKGROUND: Male hypogonadism, arising from a range of etiologies including androgen-deprivation therapies (ADTs), has been reported as a risk factor for acquired long-QT syndrome (aLQTS) and torsades de pointes (TdP). A full description of the clinical features of aLQTS associated with ADT and of underlying mechanisms is lacking. METHODS: We searched the international pharmacovigilance database VigiBase for men (n=6 560 565 individual case safety reports) presenting with aLQTS, TdP, or sudden death associated with ADT. In cardiomyocytes derived from induced pluripotent stem cells from men, we studie...
Source: Annales d'Endocrinologie - Category: Endocrinology Authors: Tags: Ann Endocrinol (Paris) Source Type: research
CONCLUSION:  The results indicate that the methods applied would be efficient for the identification of these genetic cardiac diseases. PMID: 32079026 [PubMed - as supplied by publisher]
Source: Methods of Information in Medicine - Category: Information Technology Authors: Tags: Methods Inf Med Source Type: research
Acquired long QT syndrome is a well-described pathology in the pediatric population. Previous publications demonstrated that patients undergoing hematopoietic stem cell transplantation (HSCT) can develop cardiac complications, and several of these patients develop drug-induced long QT syndrome in the post-transplant period. Previous publications suggest that HSCT patients present significant QT prolongation in the early post-transplantation period.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Tags: 184 Source Type: research
Publication date: Available online 20 November 2019Source: Stem Cell ResearchAuthor(s): Manuela Mura, Francesca Bastaroli, Marzia Corli, Monia Ginevrino, Federica Calabrò, Marina Boni, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano GnecchiAbstractWe generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 years old female patient homozygous for the mutation c.535 G>A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogram...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harbouring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers.
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Abstract Long-QT syndrome, a frequently fatal inherited arrhythmia syndrome caused by genetic variants (congenital) or drugs (acquired), affects 1 in 2000 people worldwide. Its sentinel event is often sudden cardiac death, which makes preclinical diagnosis by genetic testing potentially life-saving. Unfortunately, clinical experience with genetic testing has shown that it is difficult to correctly identify genetic variants as disease causing. These current deficiencies in accurately assigning pathogenicity led to the discovery of increasing numbers of rare variants classified as variant of uncertain significance. ...
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research
AbstractLong QT syndrome (LQTS) is an inherited primary arrhythmia syndrome that may present with malignant arrhythmia and, rarely, risk of sudden death. The clinical symptoms include palpitations, syncope, and anoxic seizures secondary to ventricular arrhythmia, classicallytorsade de pointes. This predisposition to malignant arrhythmia is from a cardiac ion channelopathy that results in delayed repolarization of the cardiomyocyte action potential. The QT interval on the surface electrocardiogram is a summation of the individual cellular ventricular action potential durations, and hence is a surrogate marker of the abnorma...
Source: Pediatric Cardiology - Category: Cardiology Source Type: research
This study aimed to propose a phenotypic cell-based diagnostic assay for identifying LQTS to recognize pathogenic variants in a high-throughput manner suitable for screening. We investigated the response of LQT2-induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) following IKr blockade using a multi-electrode array, finding that the response to IKr blockade was significantly smaller than in Control-iPSC-CMs. Furthermore, we found that LQT1-iPSC-CMs and LQT3-iPSC-CMs could be distinguished from Control-iPSC-CMs by IKs blockade and INa blockade, respectively. This strategy might be helpful in compensating ...
Source: Stem Cell Reports - Category: Stem Cells Source Type: research
In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients. The patient-specific iPSC lines harbouring the c.1697C>A mutation expressed pluripotency markers and had the capacity to differentiate into three germ layers.
Source: Stem Cell Research - Category: Stem Cells Source Type: research
More News: Genetics | Long QT Syndrome | Stem Cell Therapy | Stem Cells | Study