0000000000165135

AUTHOR

Martin Farr

showing 2 related works from this author

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

2013

Long QT syndromes (LQTS) are heritable diseases characterized by prolongation of the QT interval on an electrocardiogram, which often leads to syncope and sudden cardiac death. Here we report the generation of induced pluripotent stems (iPS) cells from two patients with LQTS type 3 carrying a different point mutation in a sodium channel Nav1.5 (p.V240M and p.R535Q) and functional characterization of cardiomyocytes (CM) derived from them. The iPS cells exhibited all characteristic properties of pluripotent stem cells, maintained the disease-specific mutation and readily differentiated to CM. The duration of action potentials at 50% and 90% repolarization was longer in LQTS-3 CM as compared t…

AdultMalePluripotent Stem Cellsmedicine.medical_specialtyLong QT syndromeCellular differentiationlcsh:MedicineAction PotentialsNAV1.5 Voltage-Gated Sodium ChannelQT intervalMembrane PotentialsNAV1.5 Voltage-Gated Sodium ChannelInternal medicinemedicineRepolarizationHumansPoint MutationMyocytes CardiacInduced pluripotent stem celllcsh:ScienceCells CulturedMultidisciplinarybusiness.industryPoint mutationSodium channellcsh:RCell Differentiationmedicine.diseaseLong QT SyndromeEndocrinologylcsh:QFemalebusinessResearch ArticlePLoS ONE
researchProduct

<i>In vitro</i> Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells

2011

Background/Aims: Induced pluripotent stem (iPS) cells generated from accessible adult cells of patients with genetic diseases open unprecedented opportunities for exploring the pathophysiology of human diseases in vitro. Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is an inherited cardiac disorder that is caused by mutations in the cardiac ryanodine receptor type 2 gene (RYR2) and is characterized by stress-induced ventricular arrhythmia that can lead to sudden cardiac death in young individuals. The aim of this study was to generate iPS cells from a patient with CPVT1 and determine whether iPS cell-derived cardiomyocytes carrying patient specific RYR2 mutation recap…

PhysiologyRyanodine receptorCellular differentiationPharmacologyBiologyCatecholaminergic polymorphic ventricular tachycardiamedicine.diseaseRyanodine receptor 2Calcium imagingcardiovascular systemmedicineMyocytePatch clampInduced pluripotent stem cellCellular Physiology and Biochemistry
researchProduct