Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation

Giada Cattelan; Laura Sophie Frommelt; Chiara Volani; Andrea Colliva; Giulio Ciucci; Alessia Paldino; Matteo Dal Ferro; Marina Di Segni; Rosamaria Silipigni; Peter P. Pramstaller; Marzia De Bortoli; Serena Zacchigna; Alessandra Rossini

Stem Cell Research (Sep 2023)

Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation

Giada Cattelan,
Laura Sophie Frommelt,
Chiara Volani,
Andrea Colliva,
Giulio Ciucci,
Alessia Paldino,
Matteo Dal Ferro,
Marina Di Segni,
Rosamaria Silipigni,
Peter P. Pramstaller,
Marzia De Bortoli,
Serena Zacchigna,
Alessandra Rossini

Affiliations

Giada Cattelan: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Faculty of Science and Technology, Free University of Bolzano, Bolzano, BZ, Italy; Corresponding author at: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
Laura Sophie Frommelt: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy
Chiara Volani: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy; The Cell Physiology MiLab, Department of Biosciences, Università degli Studi di Milano, Milano, Italy
Andrea Colliva: Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy
Giulio Ciucci: Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy
Alessia Paldino: Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy
Matteo Dal Ferro: Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Italy
Marina Di Segni: Laboratory of Medical Genetics, Fondazione IRCCS Cá Granda, Ospedale Maggiore Policlinico, Milano, Italy
Rosamaria Silipigni: Laboratory of Medical Genetics, Fondazione IRCCS Cá Granda, Ospedale Maggiore Policlinico, Milano, Italy
Peter P. Pramstaller: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy
Marzia De Bortoli: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy
Serena Zacchigna: Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy
Alessandra Rossini: Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy

Journal volume & issue: Vol. 71
p. 103172

Abstract

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Dilated cardiomyopathy (DCM) is a common heart disorder caused by genetic and non-genetic etiologies, characterized by left ventricular dilatation and contractile dysfunction. Here, we created a human induced pluripotent stem cell line from peripheral blood mononuclear cells using non-integrating vectors from a patient carrying a heterozygous LMNA variant (c.481G > A, p.Glu161Lys, NM_170707.4). The obtained EURACi015-A line, showed the typical morphology of pluripotent cells, normal karyotype and exhibited pluripotency markers and a trilineage differentiation potential. This cell line can be successfully differentiated into cardiomyocytes and endothelial cells. This line represents a human in vitro model to study the genetic basis of DCM.

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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