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 Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine Hellenga Toji, Kasinathan Muralidharan; Show fewer authors 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