Generation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient carrying the KCNQ1 c.343G > A p.(E115K) variant.

Abstract

Long QT syndrome type 1 (LQT1) results from KCNQ1 mutations that compromise the slow delayed rectifier potassium current (IKs), delaying cardiac repolarization, prolonging the QT interval, and increasing risk of life-threatening arrhythmias. LQT1 proarrhythmic risk is most often triggered by exercise, especially swimming, when autonomic demands require rate-dependent shortening of repolarization that IKs cannot adequately adapt to. Here, an induced pluripotent stem cell line was generated from an individual carrying the KCNQ1 c.343G > A p.(E115K) variant who experienced sudden cardiac arrest while swimming; the resulting cell line exhibited normal colony morphology, karyotype, pluripotency, and differentiation capacity, positioning it for translational research.