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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

Cattelan, Giada
•
Sophie Frommelt, Laura
•
Volani, Chiara
altro
Rossini, Alessandra
2023
  • journal article

Periodico
STEM CELL RESEARCH
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.
DOI
10.1016/j.scr.2023.103172
WOS
WOS:001052539000001
Archivio
https://hdl.handle.net/11368/3055881
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85166557127
https://www.sciencedirect.com/science/article/pii/S1873506123001587
Diritti
open access
license:creative commons
license uri:http://creativecommons.org/licenses/by-nc-nd/4.0/
FVG url
https://arts.units.it/bitstream/11368/3055881/2/1-s2.0-S1873506123001587-main.pdf
Soggetti
  • DCM

  • iPSC

  • LMNA

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