Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.

• Tác giả: Richard D Bagnall, Stuart T Fraser, Mira Holliday, Serena Li, Seakcheng Lim, Ginell N Ranpura, Samantha B Ross, Christopher Semsarian, Emma S Singer
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Stem cell research , 2025
• Bộ sưu tập: NCBI
• ID: 217360

Tóm tắt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca