Generation of Patient-Specific Induced Pluripotent Stem Cell Lines with Type 2 Long QT Syndrome and the KCNH2 c.379C>T Pathogenic Variant - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Stem Cell Research Année : 2023

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

Florence Bernex
  • Fonction : Auteur

Résumé

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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Dates et versions

hal-04190647 , version 1 (16-09-2023)

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Lamia Goual, Elisa Bounasri, Marie Vincenti, Pascal Amédro, Romain Desprat, et al.. 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, 2023, pp.103192. ⟨10.1016/j.scr.2023.103192⟩. ⟨hal-04190647⟩
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