ID   GM17821
AC   CVCL_0P73
DR   CLO; CLO_0016513
DR   Coriell; GM17821
DR   Wikidata; Q54849245
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Glu285Ala (c.854A>C); ClinVar=VCV000002605; 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   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751;
RA   Kalman, Lisa V.
RA   Wilson, Jean Amos
RA   Buller-Burckle, Arlene M.
RA   Dixon, John
RA   Edelmann, Lisa J.
RA   Geller, Louis
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Kornreich, Ruth
RA   Rohlfs, Elizabeth M.
RA   Payeur, Toby L.
RA   Sellers, Tina
RA   Toji, Lorraine Hellenga
RA   Muralidharan, Kasinathan
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).
//