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
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.
Authors
- Martina Calore (ORCID: https://orcid.org/0000-0003-4751-1476)
- Jolanda van Hengel (ORCID: https://orcid.org/0000-0003-0645-0435)
- Paul Coucke (ORCID: https://orcid.org/0000-0001-7119-586X)
- Laurens Léger (ORCID: https://orcid.org/0000-0002-2316-2112)
- Björn Menten (ORCID: https://orcid.org/0000-0001-8182-659X)
- Barbara Bauce (ORCID: https://orcid.org/0000-0001-7357-293X)
- Libero Vitiello (ORCID: https://orcid.org/0000-0003-0017-0838)
- J.G. Aalders (ORCID: https://orcid.org/0000-0002-9317-2279)
- Alessandra Rampazzo (ORCID: https://orcid.org/0000-0003-3884-8843)
- Nina Heymans
- Kiara Van Acker-Verberckt
- Léa De Bleeckere
Institutions
- University of Padua (IT)
- Ghent University Hospital (BE)
- Ghent University (BE)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1016/j.scr.2024.103537
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universitair Ziekenhuis Gent
- Universiteit Gent
- Koning Boudewijnstichting