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Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant.

Stem cell research - 1 Oct 2023

Goual Lamia, Bounasri Elisa, Vincenti Marie, Amédro Pascal, Desprat Romain, Bernex Florence, Lemaitre Jean-Marc, Pasquié Jean-Luc, Lacampagne Alain, Thireau Jérôme, Meli Albano C

Abstract excerpt

Type 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC) lines from two patients with LQT2, aged 18 and 6, both carrying a heterozygous missense mutation on the 3rd and 11th exons of KCNH2. The iPSC lines exhibited normal genomes, expressed pluripotent markers, and differentiated into trilineage embryonic layers....

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Identifiers

PMID: 37660555
DOI: 10.1016/j.scr.2023.103192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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