Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Boen HM, Vandendriessche B, Schippers J, Rabaut L, Nijak-Paeske A, Ponsaerts P, Van Craenenbroeck EM, Loeys B, Alaerts M |
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| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103536 |
| PubMed | 39167847 |
| DOI | 10.1016/j.scr.2024.103536 |