ID   GM21551
AC   CVCL_0N46
DR   CLO; CLO_0014069
DR   Coriell; GM21551
DR   Wikidata; Q54851983
RX   PubMed=19359498;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Ile507Val (c.1519A>G); ClinVar=VCV000188863; Zygosity=Heterozygous; Note=Benign (PubMed=19359498).
CC   Sequence variation: Mutation; 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.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 16
//
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).
//