Key result
Patient-derived LQT1 iPSC line with KCNQ1 E115K variant exhibits normal morphology, karyotype, and pluripotency.
The successful generation of an iPSC line from a patient with a specific LQT1 mutation provides a valuable preclinical model for studying the mechanisms of exercise-induced arrhythmias.
This iPSC line may enable LQT1 disease modeling; leaves open clinical translation pending functional and therapeutic validation.
Long QT syndrome type 1 (LQT1) results from KCNQ1 mutations that compromise the slow delayed rectifier potassium current (I Ks ), 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 I Ks 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.
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Kang et al. (2026) studied Long QT syndrome type 1 (LQT1) (n=1). Generation of an induced pluripotent stem cell line was evaluated on Colony morphology, karyotype, pluripotency, and differentiation capacity. An induced pluripotent stem cell line generated from a patient with LQT1 carrying the KCNQ1 c.343G > A p.(E115K) variant exhibited normal colony morphology, karyotype, and pluripotency.
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