ID   UMGi121-A.2
AC   CVCL_A4JR
SY   GOEi092-A.2; isARVCb1.2
DR   hPSCreg; UMGi121-A
DR   SKIP; SKIP003195
DR   Wikidata; Q105511617
RX   PubMed=29566126;
WW   https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=164
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; 3049; DSG2; Simple; p.Gly638Arg (c.1912G>A); ClinVar=VCV000161224; Zygosity=Heterozygous (PubMed=29566126).
CC   Caution: The University Medical Center Goettingen is not following the guidelines of hPSCreg regarding the naming of their cell lines: they are assigning a single name (here UMGi121-A) for a series of distinct clones.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C177248; Familial arrhythmogenic right ventricular dysplasia 10
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4JS ! UMGi121-A.3
OI   CVCL_A4JT ! UMGi121-A.4
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=29566126; DOI=10.1093/europace/euy042;
RA   El-Battrawy I., Zhao Z.-H., Lan H., Cyganek L., Tombers C., Li X.,
RA   Buljubasic F., Lang S., Tiburcy M., Zimmermann W.-H., Utikal J.S.,
RA   Wieland T., Borggrefe M., Zhou X.-B., Akin I.;
RT   "Electrical dysfunctions in human-induced pluripotent stem
RT   cell-derived cardiomyocytes from a patient with an arrhythmogenic
RT   right ventricular cardiomyopathy.";
RL   Europace 20:F46-F56(2018).
//