ID   GM07406
AC   CVCL_BT18
DR   CLO; CLO_0016910
DR   Coriell; GM07406
DR   Wikidata; Q54842721
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.-137C>G (-87C>G); ClinVar=VCV000015464; Zygosity=Heterozygous (Coriell=GM07406).
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.93-21G>A (IVS1,G>A,+110); ClinVar=VCV000015454; Zygosity=Heterozygous (Coriell=GM07406).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 02-05-24; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.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).
//