ID   GM18800
AC   CVCL_0N27
DR   CLO; CLO_0026221
DR   Coriell; GM18800
DR   Wikidata; Q54849855
RX   PubMed=19359498;
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM18800).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; c.1766+1G>A (1898+1G>A); ClinVar=VCV000007168; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM18800).
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   25Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
//
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).
//