ID   GM13591
AC   CVCL_7533
SY   GM 13591
DR   CLO; CLO_0032917
DR   BioSample; SAMN00802498
DR   Coriell; GM13591
DR   Wikidata; Q54846648
RX   PubMed=14709668;
RX   PubMed=16244288;
RX   PubMed=19359498;
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg117His (c.350G>A); ClinVar=VCV000007109; Zygosity=Heterozygous (PubMed=19359498).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 23
//
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=16244288; DOI=10.1373/clinchem.2005.048686;
RA   Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V.,
RA   Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G.,
RA   Stenzel T.T.;
RT   "Characterization of publicly available lymphoblastoid cell lines for
RT   disease-associated mutations in 11 genes.";
RL   Clin. Chem. 51:2156-2159(2005).
//
RX   PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335;
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).
//