ID   EURACi007-A
AC   CVCL_A0LV
SY   PZE#8
DR   hPSCreg; EURACi007-A
DR   Wikidata; Q108820202
RX   PubMed=34298432;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.Asn346Leufs*12 (c.1035-5203_1171-13298del); Zygosity=Heterozygous (PubMed=34298432).
CC   Derived from sampling site: Peripheral blood.
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   Female
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 21-03-23; Version: 3
//
RX   PubMed=34298432; DOI=10.1016/j.scr.2021.102466;
RA   Meraviglia V., Cattelan G., De Bortoli M., Motta B.M., Volpato C.B.,
RA   Frommelt L.S., Rauhe W., Di Segni M., Silipigni R., Pramstaller P.P.,
RA   Rossini A.;
RT   "Generation and characterization of three human induced pluripotent
RT   stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three
RT   different individuals of the same family with arrhythmogenic
RT   cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12
RT   mutation.";
RL   Stem Cell Res. 55:102466-102466(2021).
//