Key result
A human induced pluripotent stem cell line (KSCBi015-A) was successfully generated from an LQT1 patient with a KCNQ1 mutation, demonstrating pluripotency and normal karyotype.
The establishment of this patient-specific iPSC line provides a valuable in vitro model for studying the cellular mechanisms of Long QT syndrome type 1.
Patient-specific iPSC line enables LQT1 modeling; leaves open clinical translation of stem cell therapies.
Long QT syndrome type 1 (LQT1) is a genetic cardiac disorder caused by a loss-of-function mutation in the KCNQ1 gene. In this study, we generated a human induced stem cell line (KSCBi015-A) from an LQT1 patient with a heterozygous mutation located in the KCNQ1 gene, c.569G > A. The KSCBi015-A cell line showed the maintenance of stem cell-like morphology, normal karyotype, and pluripotency, and could differentiate into three germ layers in vitro.
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Lee et al. (2021) studied Long QT syndrome type 1 (LQT1) (n=1). Generation of human induced pluripotent stem cell line (KSCBi015-A) was evaluated on Cell line characteristics (morphology, karyotype, pluripotency, differentiation). A human induced pluripotent stem cell line (KSCBi015-A) was successfully generated from an LQT1 patient with a KCNQ1 mutation, demonstrating pluripotency and normal karyotype.
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