Stem Cell Res. 2026 Sep 17;96:104108. doi: 10.1016/j.scr.2026.104108. Online ahead of print.
ABSTRACT
Long QT syndrome type 1 (LQT1) results from KCNQ1 mutations that compromise the slow delayed rectifier potassium current (I), 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 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.
PMID:42763977 | DOI:10.1016/j.scr.2026.104108