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Cellosaurus GM16266 (CVCL_W238)

[Text version]
Cell line name GM16266
Synonyms GM 16266
Accession CVCL_W238
Resource Identification Initiative To cite this cell line use: GM16266 (RRID:CVCL_W238)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Lys (c.19G>A) (E6K); ClinVar=VCV000015126; Zygosity=Heterozygous (Coriell=GM16266).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM16266).
Disease Sickle cell disease (NCIt: C34383)
Sickle cell anemia (ORDO: Orphanet_232)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
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; GM16266
Cell line databases/resources CLO; CLO_0019439
Encyclopedic resources Wikidata; Q54848409
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number19