ID   GM07407
AC   CVCL_N061
SY   GM07407A; GM17325
DR   CLO; CLO_0013637
DR   CLO; CLO_0016909
DR   Coriell; GM07407
DR   Coriell; GM17325
DR   Wikidata; Q54842722
RX   CelloPub=CLPUB00447;
CC   Part of: Human variation panel.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.92+1G>A (IVS1,G>A,+1); ClinVar=VCV000015436; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07407).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.92+6T>C (IVS1,T>C,+6) (IVS I-6 T>C); ClinVar=VCV000015450; Zygosity=Heterozygous (Coriell=GM07407).
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: 05-11-13; Last updated: 19-12-24; Version: 20
//
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).
//