ID   GM13033
AC   CVCL_N201
SY   GM17298
DR   CLO; CLO_0013130
DR   CLO; CLO_0014027
DR   BioSample; SAMN00802032
DR   Coriell; GM13033
DR   Coriell; GM17298
DR   Wikidata; Q54846274
RX   PubMed=14709668;
RX   PubMed=19359498;
RX   PubMed=20889555;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   HLA typing: A*03:01:01,11:01:01; B*07:02:01,08:01:01; C*07:01:01,07:02:01; DPA1*01:03:01,02:01:02; DPB1*01:01:01,04:01:01; DQA1*01:02:01,05:01:01; DQB1*02:01:01,06:02:01; DRB1*03:01:01,15:01:01; DRB3*01:01:02; DRB5*01:01:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508Cys (c.1523T>G); ClinVar=VCV000007126; Zygosity=Heterozygous; Note=Benign (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   Male
AG   44Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 18
//
RX   PubMed=14709668; DOI=10.1373/clinchem.2003.028068;
RA   Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V.,
RA   Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A.,
RA   Stenzel T.T.;
RT   "Multicenter characterization and validation of the intron-8 poly(T)
RT   tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis
RT   reference cell lines for cystic fibrosis transmembrane conductance
RT   regulator (CFTR) gene mutation assays.";
RL   Clin. Chem. 50:251-254(2004).
//
RX   PubMed=19359498; DOI=10.2353/jmoldx.2009.080149;
RA   Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L.,
RA   Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M.,
RA   Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.;
RT   "Development of genomic reference materials for cystic fibrosis
RT   genetic testing.";
RL   J. Mol. Diagn. 11:186-193(2009).
//
RX   PubMed=20889555; DOI=10.2353/jmoldx.2010.100090;
RA   Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N.,
RA   Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M.,
RA   Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J.,
RA   Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H.,
RA   Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B.,
RA   Yeo K.-T.J., Zeller M., Kalman L.V.;
RT   "Characterization of 107 genomic DNA reference materials for CYP2D6,
RT   CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for
RT   Molecular Pathology collaborative project.";
RL   J. Mol. Diagn. 12:835-846(2010).
//
RX   PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009;
RA   Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N.,
RA   Jennings L., Kalman L.V., Monos D.S.;
RT   "Characterization of 108 genomic DNA reference materials for 11 human
RT   leukocyte antigen loci: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 20:703-715(2018).
//