ID   GM11281
AC   CVCL_V225
DR   CLO; CLO_0025987
DR   Coriell; GM11281
DR   Wikidata; Q54844961
RX   CelloPub=CLPUB00447;
RX   PubMed=14709668;
RX   PubMed=19359498;
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11281).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM11281).
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   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 19
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//