Article
Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.
Stem cell research - 1 Apr 2022
Cimarosti Bastien, Canac Robin, De Waard Stephan, Girardeau Aurore, Gaignerie Anne, Derevier Aude, Forest Virginie, Ronjat Michel, Le Marec Hervé, Gourraud Jean-Baptiste, Lemarchand Patricia, De Waard Michel, Lamirault Guillaume, Gaborit Nathalie
Abstract excerpt
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an exercise and emotional stress-induced life-threatening inherited heart rhythm disorder, characterized by an abnormal cellular calcium homeostasis. Most reported cases have been linked to mutations in the gene encoding the type 2 ryanodine receptor gene, RYR2. We generated induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear...
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