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Generation of human induced pluripotent stem cell lines from three patients affected by Catecholaminergic Polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene

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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

Edité par CCSD ; Elsevier -

International audience. 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 cells (PBMC) from three CPVT-affected patients, two of them carrying p.R4959Q mutation and one carrying p.Y2476D mutation. These generated hiPSC lines are a useful model to study pathophysiological consequences of RYR2 dysfunction in humans and the molecular basis of CPVT.

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