The successful generation of patient-specific iPSC lines carrying the KCNQ1 c.1697C>A mutation provides a valuable in vitro model for studying familial Long QT Syndrome type 1.
Supports iPSC-based LQTS1 modeling; leaves open clinical translation pending validation.
Long QT Syndrome type 1 (LQT1), an inherited cardiac ion channelopathy associated with arrhythmias and risk of sudden death, is caused by mutations in KCNQ1 encoding the α-subunit of Kv7.1, that affects the slow component of delayed rectifier K+ current (IKs) channel. In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients. The patient-specific iPSC lines harbouring the c.1697C>A mutation 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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