ID   UMGi126-A.12
AC   CVCL_A4UE
SY   GOEi098-A.12; isBrSd1.12
DR   hPSCreg; UMGi126-A
DR   Wikidata; Q107117308
RX   PubMed=31106349;
WW   https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=171
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; 10582; SCN10A; Simple; p.Arg1250Gln (c.3749G>A); ClinVar=VCV000221068; Zygosity=Heterozygous (PubMed=31106349).
CC   Sequence variation: Mutation; HGNC; 10582; SCN10A; Simple; p.Arg1268Gln (c.3803G>A); ClinVar=VCV000240673; Zygosity=Heterozygous (PubMed=31106349).
CC   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.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4UD ! UMGi126-A.9
OI   CVCL_A4UF ! UMGi126-A.13
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=31106349; DOI=10.1093/europace/euz122;
RA   El-Battrawy I., Albers S., Cyganek L., Zhao Z.-H., Lan H., Li X.,
RA   Xu Q., Kleinsorge M., Huang M.-Y., Liao Z.-X., Zhong R.-J., Rudic B.,
RA   Muller J., Dinkel H., Lang S., Diecke S., Zimmermann W.-H., Utikal J.S.,
RA   Wieland T., Borggrefe M., Zhou X.-B., Akin I.;
RT   "A cellular model of Brugada syndrome with SCN10A variants using
RT   human-induced pluripotent stem cell-derived cardiomyocytes.";
RL   Europace 21:1410-1421(2019).
//