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

doi:10.1016/j.scr.2024.103537

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Article number	103537
Number of pages	5
Journal	Stem Cell Research
Volume	81
DOIs	https://doi.org/10.1016/j.scr.2024.103537
Publication status	Published - 1 Dec 2024

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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. (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. Stem Cell Research, 81, Article 103537. https://doi.org/10.1016/j.scr.2024.103537

@article{66b8327b956a4ff2bfbbc23c1caac6bf,

title = "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",

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{\textregistered}-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.",

author = "Laurens L{\'e}ger and Jeffrey Aalders and Nina Heymans and {Van Acker-Verberckt}, Kiara and {De Bleeckere}, L{\'e}a and Paul Coucke and Bj{\"o}rn Menten and Barbara Bauce and Libero Vitiello and Alessandra Rampazzo and Martina Calore and {van Hengel}, Jolanda",

note = "Funding Information: Belgian Heart Fund (King Baudouin foundation, STI.KBS.2020.0009.01) granted to JvH; Horizon-EIC-2022-Pathfinder grant (IMPACT; 101115536) to MC and AR. Publisher Copyright: {\textcopyright} 2024 The Author(s)",

year = "2024",

month = dec,

day = "1",

doi = "10.1016/j.scr.2024.103537",

language = "English",

volume = "81",

journal = "Stem Cell Research",

issn = "1873-5061",

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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 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', Stem Cell Research, vol. 81, 103537. https://doi.org/10.1016/j.scr.2024.103537

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 et al.
In: Stem Cell Research, Vol. 81, 103537, 01.12.2024.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - 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

AU - Léger, Laurens

AU - Aalders, Jeffrey

AU - Heymans, Nina

AU - Van Acker-Verberckt, Kiara

AU - De Bleeckere, Léa

AU - Coucke, Paul

AU - Menten, Björn

AU - Bauce, Barbara

AU - Vitiello, Libero

AU - Rampazzo, Alessandra

AU - Calore, Martina

AU - van Hengel, Jolanda

N1 - Funding Information: Belgian Heart Fund (King Baudouin foundation, STI.KBS.2020.0009.01) granted to JvH; Horizon-EIC-2022-Pathfinder grant (IMPACT; 101115536) to MC and AR. Publisher Copyright: © 2024 The Author(s)

PY - 2024/12/1

Y1 - 2024/12/1

N2 - 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.

AB - 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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