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

Hanne M. Boen; Bert Vandendriessche; Jolien Schippers; Laura Rabaut; Aleksandra Nijak-Paeske; Peter Ponsaerts; Emeline M. Van Craenenbroeck; Bart Loeys; Maaike Alaerts

Stem Cell Research (Dec 2024)

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

Hanne M. Boen,
Bert Vandendriessche,
Jolien Schippers,
Laura Rabaut,
Aleksandra Nijak-Paeske,
Peter Ponsaerts,
Emeline M. Van Craenenbroeck,
Bart Loeys,
Maaike Alaerts

Affiliations

Hanne M. Boen: University of Antwerp and Antwerp University Hospital, GENCOR, Cardiovascular Research, Belgium; University of Antwerp, GENCOR, Center of Medical Genetics, Belgium; Corresponding author.
Bert Vandendriessche: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium
Jolien Schippers: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium
Laura Rabaut: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium
Aleksandra Nijak-Paeske: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium
Peter Ponsaerts: University of Antwerp, Vaccine and Infectious Disease Institute, Belgium
Emeline M. Van Craenenbroeck: University of Antwerp and Antwerp University Hospital, GENCOR, Cardiovascular Research, Belgium
Bart Loeys: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium
Maaike Alaerts: University of Antwerp, GENCOR, Center of Medical Genetics, Belgium

Journal volume & issue: Vol. 81
p. 103536

Abstract

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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 TTNtv (TTNtvA). We created isogenic human induced pluripotent stem cell lines (hiPSC) with TTNtvI and TTNtvA using CRISPR/Cas9, for the investigation of the pathomechanism in hiPSC-derived cardiomyocytes (hiPSC-CMs). Exon 48 (E48), located in the I-band, and exon 357 (E357), located in the A-band were targeted.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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