Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin

Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin

Truncating variants in TTN (TTNtv) are present in 15–25 % of patients with idiopathic dilated cardiomyopathy. Interestingly, the pathogenicity of TTNtv seems to be linked to their location within the gene. More proximal I-band TTNtv (TTNtvI) harbour less pathogenic potential than distant A-band TTNt...

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Main Authors: Hanne M. Boen, Bert Vandendriessche, Jolien Schippers, Laura Rabaut, Aleksandra Nijak-Paeske, Peter Ponsaerts, Emeline M. Van Craenenbroeck, Bart Loeys, Maaike Alaerts
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124002344
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