An iPSC line with the pathogenic KCNH2 c.1682C>T variant was generated, retaining pluripotency and differentiation potential, enabling LQT2 patient-specific research.
The generation of this patient-specific LQT2 iPSC line provides a valuable resource for disease modeling and precision medicine research in cardiac channelopathies.
Long QT syndrome type 2 (LQT2) is a life-threatening cardiac channelopathy caused by variants in the KCNH2 gene, which encodes the hERG channel. Reduced rapid delayed rectifier potassium current (I Kr ) delays ventricular repolarization and prolongs the QT interval, increasing susceptibility to Torsade de Pointes and sudden cardiac death. A LQT2 induced pluripotent stem cell (iPSC) line carrying the pathogenic KCNH2 c.1682C>T (p.Ala561Val) variant was generated from a patient who experienced syncope; the resulting iPSC line exhibits a normal karyotype, typical stem cell morphology, pluripotency, and trilineage differentiation potential, providing a valuable resource for disease- and patient-specific translational and precision medicine research.
DeBose et al. (2026) studied this question. An iPSC line with the pathogenic KCNH2 c.1682C>T variant was generated, retaining pluripotency and differentiation potential, enabling LQT2 patient-specific research.