ID   GM07428
AC   CVCL_F307
SY   GM17047; GM17376
DR   CLO; CLO_0013701
DR   CLO; CLO_0014639
DR   CLO; CLO_0016895
DR   Coriell; GM07428
DR   Coriell; GM17047
DR   Coriell; GM17376
DR   Wikidata; Q54842749
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Caucasian; Greek.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.92+6T>C (IVS1,T>C,+6) (IVS I-6 T>C); ClinVar=VCV000015450; Zygosity=Heterozygous (Coriell=GM07428).
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.316-106C>G (IVS2,C>G,+745); ClinVar=VCV000015457; Zygosity=Heterozygous (Coriell=GM07428).
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   Male
AG   33Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 18
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//