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 Cattelan G., Frommelt L.-S., Volani C., Colliva A., Ciucci G., Paldino A., Dal Ferro M., Di Segni M., Silipigni R., Pramstaller P.P., De Bortoli M., Zacchigna S., Rossini A. 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