Cellosaurus cell line UMGi126-A.13 (CVCL

Cellosaurus UMGi126-A.13 (CVCL_A4UF)

Cross-references
Cell line name	UMGi126-A.13
Synonyms	GOEi098-A.23; isBrSd1.23
Accession	CVCL_A4UF
Resource Identification Initiative	To cite this cell line use: UMGi126-A.13 (RRID:CVCL_A4UF)
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 UMGi126-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:10582; SCN10A; Simple; p.Arg1250Gln (c.3749G>A); ClinVar=VCV000221068; Zygosity=Heterozygous (PubMed=31106349). Mutation; HGNC; HGNC:10582; SCN10A; Simple; p.Arg1268Gln (c.3803G>A); ClinVar=VCV000240673; Zygosity=Heterozygous (PubMed=31106349).
Disease	Brugada syndrome (NCIt: C142891) Brugada syndrome (ORDO: Orphanet_130)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4UD ! UMGi126-A.9 CVCL_A4UE ! UMGi126-A.12
Sex of cell	Male
Age at sampling	52Y
Category	Induced pluripotent stem cell
Web pages	https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=171
Publications	PubMed=31106349; DOI=10.1093/europace/euz122 El-Battrawy I., Albers S., Cyganek L., Zhao Z.-H., Lan H., Li X., Xu Q., Kleinsorge M., Huang M.-Y., Liao Z.-X., Zhong R.-J., Rudic B., Muller J., Dinkel H., Lang S., Diecke S., Zimmermann W.-H., Utikal J.S., Wieland T., Borggrefe M., Zhou X.-B., Akin I. A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes. Europace 21:1410-1421(2019)
Cell line databases/resources	hPSCreg; UMGi126-A
Encyclopedic resources	Wikidata; Q107117309
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6