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 Benedetta Ermon, Claudia Beu Volpato, Giada Cattelan, Rosamaria Silipigni, Marina Di Segni, Chiara Cantaloni, Michela Casella, Peter P. Pramstaller, Giulio Pompilio, Elena Sommariva, Viviana Meraviglia, Alessandra Rossini; 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