The generation of these specific LQT1 and LQT3 iPSC lines provides a valuable preclinical model for studying long QT syndrome.
Should not yet change LQTS management; extends isogenic iPSC models for mechanistic research.
Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (KCNQ1), LQT2 (KCNH2), and LQT3 (SCN5A). Here, we used CRISPR/Cas9 technology to generate five isogenic human induced pluripotent stem cell (iPSC) lines, one line harboring an LQT1 variant rs120074178 (KCNQ1 c.569G > A), two lines harboring an LQT3 variant rs137854600 (SCN5A c.4865G > A), and two derived control lines.
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Silva et al. (2025) studied this question.
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