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Cellosaurus UMGi120-A.15 (CVCL_A4JQ)

[Text version]
Cell line name UMGi120-A.15
Synonyms GOEi091-A.15; isSQTSa1.15
Accession CVCL_A4JQ
Resource Identification Initiative To cite this cell line use: UMGi120-A.15 (RRID:CVCL_A4JQ)
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 UMGi120-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; 6251; KCNH2; Simple; p.Asn588Lys (c.1764C>G); ClinVar=VCV000014436; Zygosity=Heterozygous (PubMed=29574456).
Disease Short QT syndrome (NCIt: C71060)
Familial short QT syndrome (ORDO: Orphanet_51083)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4JN ! UMGi120-A.7
CVCL_A4JP ! UMGi120-A.8
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Web pages https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=163
Publications

PubMed=29574456; DOI=10.1161/JAHA.117.007394; PMCID=PMC5907581
El-Battrawy I., Lan H., Cyganek L., Zhao Z.-H., Li X., Buljubasic F., Lang S., Yucel G., Sattler K., Zimmermann W.-H., Utikal J.S., Wieland T., Ravens U., Borggrefe M., Zhou X.-B., Akin I.
Modeling short QT syndrome using human-induced pluripotent stem cell-derived cardiomyocytes.
J. Am. Heart Assoc. 7:e007394.1-e007394.40(2018)

Cross-references
Cell line databases/resources hPSCreg; UMGi120-A
SKIP; SKIP003213
Encyclopedic resources Wikidata; Q105511611
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5