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

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

Stem Cell Research (Dec 2024)

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

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

Affiliations

Laurens Léger: 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
Jeffrey Aalders: 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
Nina Heymans: 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
Kiara Van Acker-Verberckt: 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
Léa De Bleeckere: 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
Paul Coucke: Center for Medical Genetics, Ghent University Hospital, and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium
Björn Menten: Center for Medical Genetics, Ghent University Hospital, and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium
Barbara Bauce: Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35122 Padova, Italy
Libero Vitiello: Department of Biology, University of Padova, via Ugo Bassi 58B, 35131 Padova, Padova, Italy
Alessandra Rampazzo: Department of Biology, University of Padova, via Ugo Bassi 58B, 35131 Padova, Padova, Italy
Martina Calore: 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
Jolanda van Hengel: 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; Corresponding author.

Journal volume & issue: Vol. 81
p. 103537

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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