ID   GM20745
AC   CVCL_0N34
DR   CLO; CLO_0029028
DR   Coriell; GM20745
DR   Wikidata; Q54851248
RX   PubMed=19359498;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ser549Asn (c.1646G>A); ClinVar=VCV000007116; Zygosity=Heterozygous (PubMed=19359498).
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   47Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//
RX   PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335;
RA   Pratt, Victoria M.
RA   Caggana, Michele
RA   Bridges, Christina
RA   Buller-Burckle, Arlene M.
RA   DiAntonio, Lisa
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Muralidharan, Kasinathan
RA   Rohlfs, Elizabeth M.
RA   Tarleton, Jack C.
RA   Toji, Lorraine Hellenga
RA   Barker, Shannon D.
RA   Kalman, Lisa V.
RT   "Development of genomic reference materials for cystic fibrosis
RT   genetic testing.";
RL   J. Mol. Diagn. 11:186-193(2009).
//