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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.
Léger, Laurens; Aalders, Jeffrey; Heymans, Nina; Van Acker-Verberckt, Kiara; De Bleeckere, Léa; Coucke, Paul; Menten, Björn; Bauce, Barbara; Vitiello, Libero; Rampazzo, Alessandra; Calore, Martina; van Hengel, Jolanda.
Affiliation
  • Léger L; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
  • Aalders J; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
  • Heymans N; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
  • Van Acker-Verberckt K; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
  • De Bleeckere L; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
  • Coucke P; Center for Medical Genetics, Ghent University Hospital, and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • Menten B; Center for Medical Genetics, Ghent University Hospital, and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • Bauce B; Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35122 Padova, Italy.
  • Vitiello L; Department of Biology, University of Padova, via Ugo Bassi 58B, 35131 Padova, Padova, Italy.
  • Rampazzo A; Department of Biology, University of Padova, via Ugo Bassi 58B, 35131 Padova, Padova, Italy.
  • Calore M; Department of Biology, University of Padova, via Ugo Bassi 58B, 35131 Padova, Padova, Italy; School of Cardiovascular Disease (CARIM), Faculty of Medicine and Health Science, Maastricht University, Maastricht, the Netherlands.
  • van Hengel J; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Entrance 37, 9000 Ghent, Belgium.
Stem Cell Res ; 81: 103537, 2024 Aug 22.
Article in En | MEDLINE | ID: mdl-39217685
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: Belgium Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: Belgium Country of publication: United kingdom