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).
Here, Martina Calore and collaborators describe the generation of a new patient-derived hiPSC line from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in DSP. 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.
For more information:
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. 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. Stem Cell Res. 2024 [doi: 10.1016/j.scr.2024.103537] [PubMed]