ID   EURACi004-A
AC   CVCL_VR55
DR   hPSCreg; EURACi004-A
DR   Wikidata; Q93546834
RX   PubMed=30219716;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple; c.2569_2577+41del (c.2569_3018del50); ClinVar=VCV000406553; Zygosity=Heterozygous (PubMed=30219716).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173471; Familial arrhythmogenic right ventricular dysplasia 9
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30219716; DOI=10.1016/j.scr.2018.09.003; PMCID=PMC6189521;
RA   Ermon B., Volpato C.B., Cattelan G., Silipigni R., Di Segni M.,
RA   Cantaloni C., Casella M., Pramstaller P.P., Pompilio G., Sommariva E.,
RA   Meraviglia V., Rossini A.;
RT   "Derivation of human induced pluripotent stem cell line EURACi004-A
RT   from skin fibroblasts of a patient with arrhythmogenic cardiomyopathy
RT   carrying the heterozygous PKP2 mutation c.2569_3018del50.";
RL   Stem Cell Res. 32:78-82(2018).
//