Cellosaurus cell line UMGi120-A.8 (CVCL

Cellosaurus UMGi120-A.8 (CVCL_A4JP)

Cross-references
Cell line name	UMGi120-A.8
Synonyms	GOEi091-A.8; isSQTSa1.8
Accession	CVCL_A4JP
Resource Identification Initiative	To cite this cell line use: UMGi120-A.8 (RRID:CVCL_A4JP)
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; 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_A4JQ ! UMGi120-A.15
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)
Cell line databases/resources	hPSCreg; UMGi120-A SKIP; SKIP003212
Encyclopedic resources	Wikidata; Q105511615
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6