Cellosaurus cell line EURACi004-A (CVCL

Cross-references
Cell line name	EURACi004-A
Accession	CVCL_VR55
Resource Identification Initiative	To cite this cell line use: EURACi004-A (RRID:CVCL_VR55)
Comments	From: EURAC Research Institute for Biomedicine; Bolzano; Italy. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9024; PKP2; Simple; c.2569_2577+41del (c.2569_3018del50); ClinVar=VCV000406553; Zygosity=Heterozygous (PubMed=30219716).
Disease	Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471) Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=30219716; DOI=10.1016/j.scr.2018.09.003; PMCID=PMC6189521 Ermon B., Volpato C.B., Cattelan G., Silipigni R., Di Segni M., Cantaloni C., Casella M., Pramstaller P.P., Pompilio G., Sommariva E., Meraviglia V., Rossini A. Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with arrhythmogenic cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50. Stem Cell Res. 32:78-82(2018)
Cell line databases/resources	hPSCreg; EURACi004-A
Encyclopedic resources	Wikidata; Q93546834
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	10