Cellosaurus cell line UMGi121-A.2 (CVCL

Cellosaurus UMGi121-A.2 (CVCL_A4JR)

Cross-references
Cell line name	UMGi121-A.2
Synonyms	GOEi092-A.2; isARVCb1.2
Accession	CVCL_A4JR
Resource Identification Initiative	To cite this cell line use: UMGi121-A.2 (RRID:CVCL_A4JR)
Comments	From: University Medical Center Goettingen; Goettingen; Germany. 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. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3049; DSG2; Simple; p.Gly638Arg (c.1912G>A); ClinVar=VCV000161224; Zygosity=Heterozygous (PubMed=29566126).
Disease	Familial arrhythmogenic right ventricular dysplasia 10 (NCIt: C177248) Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4JS ! UMGi121-A.3 CVCL_A4JT ! UMGi121-A.4
Sex of cell	Male
Age at sampling	50Y
Category	Induced pluripotent stem cell
Web pages	https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=164
Publications	PubMed=29566126; DOI=10.1093/europace/euy042 El-Battrawy I., Zhao Z.-H., Lan H., Cyganek L., Tombers C., Li X., Buljubasic F., Lang S., Tiburcy M., Zimmermann W.-H., Utikal J.S., Wieland T., Borggrefe M., Zhou X.-B., Akin I. Electrical dysfunctions in human-induced pluripotent stem cell-derived cardiomyocytes from a patient with an arrhythmogenic right ventricular cardiomyopathy. Europace 20:f46-f56(2018)
Cell line databases/resources	hPSCreg; UMGi121-A SKIP; SKIP003195
Encyclopedic resources	Wikidata; Q105511617
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6