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Cellosaurus GM14641 (CVCL_N218)

[Text version]
Cell line name GM14641
Synonyms GM 14641; GM18064
Accession CVCL_N218
Resource Identification Initiative To cite this cell line use: GM14641 (RRID:CVCL_N218)
Comments Part of: Human variation panel.
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:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM18064).
  • Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM18064).
  • Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM18064).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 47Y
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) Coriell; GM14641
Coriell; GM18064
Cell line databases/resources CLO; CLO_0015693
CLO; CLO_0031620
Encyclopedic resources Wikidata; Q54847356
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number20