ID   GM20929
AC   CVCL_0N42
DR   CLO; CLO_0015375
DR   Coriell; GM20929
DR   Wikidata; Q54851478
RX   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.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   18Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
//
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).
//