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Cellosaurus GM07406 (CVCL_BT18)

[Text version]
Cell line name GM07406
Accession CVCL_BT18
Resource Identification Initiative To cite this cell line use: GM07406 (RRID:CVCL_BT18)
Comments Population: Caucasian; Italian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4827; HBB; Simple; c.-137C>G (-87C>G); ClinVar=VCV000015464; Zygosity=Heterozygous (Coriell=GM07406).
  • Mutation; HGNC; 4827; HBB; Simple; c.93-21G>A (IVS1,G>A,+110); ClinVar=VCV000015454; Zygosity=Heterozygous (Coriell=GM07406).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM07406
Cell line databases/resources CLO; CLO_0016910
Encyclopedic resources Wikidata; Q54842721
Entry history
Entry creation02-May-2016
Last entry update02-May-2024
Version number15