ID   EURACi006-A-1
AC   CVCL_A0LU
SY   iso M003#9.3-C12; LUMCi047-A-1
DR   hPSCreg; EURACi006-A-1
DR   Wikidata; Q108820201
RX   PubMed=34134068;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple_corrected; p.Gly548Valfs*15 (c.1643delG); ClinVar=VCV000202035; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34134068).
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)
HI   CVCL_A0LT ! EURACi006-A
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34134068; DOI=10.1016/j.scr.2021.102426;
RA   Meraviglia V., Ganesh S., Arendzen C.H., Freund C.M.A.H., Sommariva E.,
RA   Rossini A., Bellin M.;
RT   "Generation of human induced pluripotent stem cell line EURACi006-A
RT   and its isogenic gene-corrected line EURACi006-A-1 from an
RT   arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2
RT   mutation.";
RL   Stem Cell Res. 54:102426-102426(2021).
//