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
oleh: Laurens Léger, Jeffrey Aalders, Nina Heymans, Kiara Van Acker-Verberckt, Léa De Bleeckere, Paul Coucke, Björn Menten, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Martina Calore, Jolanda van Hengel
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2024-12-01 |
Deskripsi
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.