Generation of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome

Up to 40 % of genetic variants identified in inherited arrhythmia syndromes (IAS) are classified as variants of uncertain significance (VUS) due to limited clinical and functional evidence. In Brugada syndrome (BrS), this challenge is further compounded by its polygenic nature, variable expressivity...

Description complète

Détails bibliographiques

Auteurs principaux:	Bert Vandendriessche, Jolien Schippers, Laura Rabaut, Peter Ponsaerts, Bart Loeys, Dorien Schepers, Maaike Alaerts
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2025-12-01
Collection:	Stem Cell Research
Sujets:	hiPSC CRISPR/Cas9 Brugada syndrome VUS Calcium
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S1873506125002259
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!