Cellosaurus cell line GM18929 (CVCL

Cross-references
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; 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)
Cell line collections (Providers)	Coriell; GM18929
Cell line databases/resources	CLO; CLO_0026276
Encyclopedic resources	Wikidata; Q54849921
Entry history
Entry creation	10-Apr-2015
Last entry update	19-Dec-2024
Version number	16