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Cellosaurus GM16028 (CVCL_4W10)

[Text version]
Cell line name GM16028
Accession CVCL_4W10
Resource Identification Initiative To cite this cell line use: GM16028 (RRID:CVCL_4W10)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3535; F2; Simple; c.*97G>A (20210G>A); ClinVar=VCV000013310; Zygosity=Heterozygous (Coriell=GM16028).
  • Mutation; HGNC; 3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM16028).
  • Mutation; HGNC; 4886; HFE; Simple; p.Ser65Cys (c.193A>T); ClinVar=VCV000000011; Zygosity=Heterozygous (Coriell=GM16028).
  • Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM16028).
Disease Deep vein thrombosis (NCIt: C49343)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 64Y
Category Transformed cell line
Publications

PubMed=16244288; DOI=10.1373/clinchem.2005.048686
Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V., Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G., Stenzel T.T.
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)

Cross-references
Cell line collections (Providers) BCRJ; 0328
Coriell; GM16028
Cell line databases/resources CLO; CLO_0018760
Encyclopedic resources Wikidata; Q54848309
Entry history
Entry creation14-Dec-2015
Last entry update30-Jan-2024
Version number14