Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing
Summary
Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP). Renal epithelial cells were isolated from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in DSP, and subsequently reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit. An isogenic control line was generated using CRISPR/Cas9 genome editing. The resulting induced pluripotent stem cell lines were characterized and displayed the required traits for in vitro disease modeling. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Léger L, Aalders J, Heymans N, Van Acker-Verberckt K, De Bleeckere L, Coucke P, Menten B, Bauce B, Vitiello L, Rampazzo A, Calore M, van Hengel J |
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| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103537 |
| PubMed | 39217685 |
| DOI | 10.1016/j.scr.2024.103537 |