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

oleh: 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

Format: Article
Diterbitkan: Elsevier 2023-09-01

Deskripsi

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.