ID   GM16266
AC   CVCL_W238
SY   GM 16266
DR   CLO; CLO_0019439
DR   Coriell; GM16266
DR   Wikidata; Q54848409
RX   PubMed=16244288;
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Lys (c.19G>A) (E6K); ClinVar=VCV000015126; Zygosity=Heterozygous (Coriell=GM16266).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Heterozygous (Coriell=GM16266).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 19
//
RX   PubMed=16244288; DOI=10.1373/clinchem.2005.048686;
RA   Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V.,
RA   Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G.,
RA   Stenzel T.T.;
RT   "Characterization of publicly available lymphoblastoid cell lines for
RT   disease-associated mutations in 11 genes.";
RL   Clin. Chem. 51:2156-2159(2005).
//