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Cellosaurus UMGi121-A.2 (CVCL_A4JR)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UMGi121-A
SKIP; SKIP003195
Encyclopedic resources Wikidata; Q105511617
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5