ID   GM07857
AC   CVCL_0M92
DR   CLO; CLO_0010274
DR   Coriell; GM07857
DR   Wikidata; Q54842970
RX   CelloPub=CLPUB00447;
RX   PubMed=19359498;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Met1101Lys (c.3302T>A); ClinVar=VCV000039516; Zygosity=Homozygous (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   14Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335;
RA   Pratt, Victoria M.
RA   Caggana, Michele
RA   Bridges, Christina
RA   Buller-Burckle, Arlene M.
RA   DiAntonio, Lisa
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Muralidharan, Kasinathan
RA   Rohlfs, Elizabeth M.
RA   Tarleton, Jack C.
RA   Toji, Lorraine Hellenga
RA   Barker, Shannon D.
RA   Kalman, Lisa V.
RT   "Development of genomic reference materials for cystic fibrosis
RT   genetic testing.";
RL   J. Mol. Diagn. 11:186-193(2009).
//