The study successfully generated and characterized patient-specific iPSC lines for LQT1 with the KCNQ1 c.1201dupC mutation, providing a cellular model for future electrophysiological research.
Provides iPSC model for LQT1 research; leaves open clinical translation pending validation.
In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harboring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers.
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Ge et al. (2019) studied this question.
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