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

doi:10.1016/j.scr.2023.103172

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

Stem Cell Res. 2023 Sep:71:103172. doi: 10.1016/j.scr.2023.103172. Epub 2023 Jul 28.

Authors

Affiliations

¹ 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. Electronic address: [email protected].
² 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.
³ 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.
⁴ Cardiovascular Biology Laboratory, ICGEB Trieste, Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy.
⁵ 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.
⁶ Laboratory of Medical Genetics, Fondazione IRCCS Cá Granda, Ospedale Maggiore Policlinico, Milano, Italy.
⁷ Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.

PMID: 37535990
DOI: 10.1016/j.scr.2023.103172

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Dilated* / genetics
Endothelial Cells / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Lamin Type A / genetics
Leukocytes, Mononuclear / metabolism
Mutation

Substances

Lamin Type A