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Article

Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant.

Stem cell research - 1 Aug 2026

Ding Dingqian, Choi Jonathan, Gollatz Elisa Marie, Harbuzariu Adriana, Itzhaki Ilanit

Abstract excerpt

Long QT syndrome type 1 (LQT1) arises from mutations in the KCNQ1 gene that diminish the slow delayed rectifier potassium current (IKs), leading to a prolonged action potential duration in cardiomyocytes and a prolonged QT interval clinically. LQT1 patients can develop proarrhythmic symptoms that can manifest as seizures, syncope, cardiac arrest, or sudden death. An iPSC line was derived from an LQT1 patient with...

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Identifiers

PMID: 42033934
DOI: 10.1016/j.scr.2026.103998

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Research trail→

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Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant.PMID 42033934Read ↗

Generation of induced pluripotent stem cell lines from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.Semantic proximity Read ↗

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Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation.Semantic proximity Read ↗

Establishment of a human induced pluripotent stem cell line, KSCBi015-A, from a long QT syndrome type 1 patient harboring a KCNQ1 mutation.Semantic proximity Read ↗

Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical ApplicationsSemantic proximity Read ↗

Generation of a human embryonic stem cell line WAe009-A-79 carrying a long QT syndrome mutation in KCNQ1.Semantic proximity Read ↗

Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation.Semantic proximity Read ↗

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