Cellosaurus cell line EURACi015-A (CVCL

Cross-references
Cell line name	EURACi015-A
Synonyms	LMNA #9
Accession	CVCL_C9IA
Resource Identification Initiative	To cite this cell line use: EURACi015-A (RRID:CVCL_C9IA)
Comments	From: EURAC Research Institute for Biomedicine; Bolzano; Italy. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu161Lys (c.481G>A); ClinVar=VCV000014504; Zygosity=Heterozygous (PubMed=37535990).
Disease	Dilated cardiomyopathy-1A (NCIt: C165596) Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	56Y
Category	Induced pluripotent stem cell
Publications	PubMed=37535990; DOI=10.1016/j.scr.2023.103172 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 ...Show all 13 authors... , Serena Zacchigna, Alessandra Rossini; Show fewer authors 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. 71:103172-103172(2023)
Cell line databases/resources	hPSCreg; EURACi015-A
Encyclopedic resources	Wikidata; Q123031255
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3