ID   GM07426
AC   CVCL_N062
SY   GM17014
DR   CLO; CLO_0016882
DR   CLO; CLO_0018028
DR   Coriell; GM07426
DR   Coriell; GM17014
DR   Wikidata; Q54842747
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Ser73Lysfs*2 (c.217dupA) (c.216_217insA) (insA codons71/72); ClinVar=VCV000015419; Zygosity=Heterozygous (Coriell=GM07426).
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (Coriell=GM07426).
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   4Y
CA   Transformed cell line
DT   Created: 05-11-13; 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).
//