ID   EURACi008-A
AC   CVCL_A0LW
SY   PZG#4
DR   hPSCreg; EURACi008-A
DR   Wikidata; Q108820203
RX   PubMed=34298432;
CC   From: EURAC Research Institute for Biomedicine; Bolzano; Italy.
CC   Population: Caucasian.
CC   Characteristics: While harboring the same PKP2 mutation as a family member from which EURACi007-A (Cellosaurus=CVCL_A0LV) was derived, the donor of this cell line did not show any symptom of arrhythmogenic right ventricular dysplasia.
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Asn346Leufs*12 (c.1035-5203_1171-13298del); Zygosity=Heterozygous (PubMed=34298432).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
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).
//