The successful derivation of an iPSC line from an LQT1 patient with a specific KCNQ1 variant provides a valuable model for translational research in proarrhythmic conditions.
Long QT syndrome type 1 (LQT1) arises from mutations in the KCNQ1 gene that diminish the slow delayed rectifier potassium current (I Ks ), leading to a prolonged action potential duration in cardiomyocytes and a prolonged QT interval clinically. LQT1 patients can develop proarrhythmic symptoms that can manifest as seizures, syncope, cardiac arrest, or sudden death. An iPSC line was derived from an LQT1 patient with clinically documented seizures carrying the pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant; the line exhibits a normal karyotype, pluripotency, trilineage differentiation capacity, and typical stem cell morphology, supporting LQT1-related studies across translational research domains
Ding et al. (Wed,) studied this question.