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Cellosaurus GM16000 (CVCL_W239)

[Text version]
Cell line name GM16000
Synonyms GM 16000
Accession CVCL_W239
Resource Identification Initiative To cite this cell line use: GM16000 (RRID:CVCL_W239)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3535; F2; Simple; c.*97G>A (20210G>A); ClinVar=VCV000013310; Zygosity=Heterozygous (Coriell=GM16000).
  • Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM16000).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM16000).
Disease Hereditary factor II deficiency (NCIt: C26799)
Congenital factor II deficiency (ORDO: Orphanet_325)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
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; 0327
Coriell; GM16000
Cell line databases/resources CLO; CLO_0018708
Encyclopedic resources Wikidata; Q54848293
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number16