Cellosaurus logo
expasy logo

Cellosaurus GM17821 (CVCL_0P73)

[Text version]
Cell line name GM17821
Accession CVCL_0P73
Resource Identification Initiative To cite this cell line use: GM17821 (RRID:CVCL_0P73)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian; Polish.
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.Glu285Ala (c.854A>C); ClinVar=VCV000002605; Zygosity=Heterozygous (PubMed=19815695).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
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; GM17821
Cell line databases/resources CLO; CLO_0016513
Encyclopedic resources Wikidata; Q54849245
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number14