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Article

Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome.

Stem cell research - 1 Jul 2021

Mondéjar-Parreño Gema, Jahng James W S, Belbachir Nadjet, Wu Blake C, Zhang Xiaolan, Perez Marco V, Badhwar Nitish, Wu Joseph C

Abstract excerpt

Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of two LQT2 patients carrying pathogenic variants (c.1714G > A and c.2960del) and one LQT2 patient carrying a variant of...

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Identifiers

PMID: 34051449
DOI: 10.1016/j.scr.2021.102402
PMCID: PMC10875632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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