Generation of two human induced pluripotent stem cell lines, LUMCi020-A and LUMCi021-A, from two patients with Catecholaminergic Polymorphic Ventricular Tachycardia carrying heterozygous mutations in the RYR2 gene

摘要

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a malignant channelopathy associated with exercise- and stress-induced cardiac sudden death. The autosomal dominant form of CPVT is due to mutations in the ryanodine receptor 2 (RYR2) gene. We generated induced pluripotent stem cells (hiPSCs) from skin fibroblasts of two patients carrying the c.12441 GT and c.14885 AG RYR2 missense mutations, respectively, using non-integrating Sendai virus. These lines show the typical morphology of pluripotent cells, express pluripotency markers, display a normal karyotype and differentiate towards the three germ layers in vitro. These lines represent a human cellular model to study the molecular basis of CPVT.