Figure 1 | Cell Death & Disease

Figure 1

From: CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia

Figure 1

Generation of iPSC from a CPVT patient skin biopsy. (A) Pedigree of the RyR2-He+/− CPVT kindred modeled in this study. Proband (II-2) is indicated by an arrow. Filled symbols indicate clinically and genetically affected subjects. Half-black symbols indicate genetically affected individuals, and upper half-black symbols indicate sudden cardiac death cases. Square=male; circle=female. (B) Example of bidirectional ventricular tachycardia recorded off-therapy in the proband (paper speed 25 mm/s). (C) Representative images of dermal fibroblasts derived from the CPVT patient (a) and of an iPSC colony derived from the patient’s fibroblasts (b) showing alkaline phosphatase activity (c) and positivity for the pluripotency markers OCT4 (d), TRA1-60 (e) and SSEA4 (f). Scale bars=100 μm. (D) Sequencing analysis confirming that the CPVT-iPSC line (He) carried the specific G-to-C mutation on one allele of the RyR2 gene, whereas control-iPSC (WT) did not show any genetic alteration. (E) iPSC lines maintained a normal karyotype after expansion

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