ID   GM18929
AC   CVCL_0P74
DR   CLO; CLO_0026276
DR   Coriell; GM18929
DR   Wikidata; Q54849921
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Tyr231Ter (c.693C>A); ClinVar=VCV000002609; Zygosity=Heterozygous (PubMed=19815695).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 15
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//