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Cellosaurus EURACi004-A (CVCL_VR55)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; EURACi004-A
Encyclopedic resources Wikidata; Q93546834
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number9