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Cellosaurus GM18929 (CVCL_0P74)

[Text version]
Cell line name GM18929
Accession CVCL_0P74
Resource Identification Initiative To cite this cell line use: GM18929 (RRID:CVCL_0P74)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 756; ASPA; Simple; p.Tyr231Ter (c.693C>A); ClinVar=VCV000002609; Zygosity=Heterozygous (PubMed=19815695).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Transformed cell line
Publications

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM18929
Cell line databases/resources CLO; CLO_0026276
Encyclopedic resources Wikidata; Q54849921
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number15