Generation of Patient-Specific Induced Pluripotent Stem Cell Lines with Type 2 Long QT Syndrome and the KCNH2 c.379C&gt;T Pathogenic Variant

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

doi:10.1016/j.scr.2023.103192

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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

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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

Lamia Goual, Elisa Bounasri, Marie Vincenti, Pascal Amedro, Romain Desprat, Florence Bernex, Jean-Marc Lemaitre, Jean Luc Pasquié, Alain Lacampagne, Jérôme Thireau, …

Stem Cell Research, Vol.72

08/2023

DOI: https://doi.org/10.1016/j.scr.2023.103192

PMID: 37660555

Abstract

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. These patient-specific iPSC lines provide a valuable model to study the molecular and functional impact of the hERG channel gene mutation in LQT2 and to develop personalized therapeutic approaches for this syndrome.

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Title: Generation of Patient-Specific Induced Pluripotent Stem Cell Lines with Type 2 Long QT Syndrome and the KCNH2 c.379C>T Pathogenic Variant
Creators - without role: Lamia Goual - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Elisa Bounasri - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Marie Vincenti - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Pascal Amedro - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Romain Desprat - Université de Montpellier, Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Florence Bernex - Université de Montpellier, BioCampus Montpellier - BCM
Jean-Marc Lemaitre - Université de Montpellier, Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Jean Luc Pasquié - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Alain Lacampagne - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Jérôme Thireau - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Albano C. Meli - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Publication Details: Stem Cell Research, Vol.72
Grant note: LG was supported by “Agence Nationale de la Recherche” (ANR ANR-21-CE18-0059, NeuroCard). EB was supported by “Association Nationale Recherche Technologie” (ANRT) and the” MicroBrain biotech” company through Industrial Agreement of Training through Research (CIFRE).
Identifiers: 9938222709311
Academic Unit: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB; Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp; BioCampus Montpellier - BCM
Language: English
Resource Type: Journal article
Local Fields: hal-04190647