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Cellosaurus GM07428 (CVCL_F307)

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Cell line name GM07428
Synonyms GM17047; GM17376
Accession CVCL_F307
Resource Identification Initiative To cite this cell line use: GM07428 (RRID:CVCL_F307)
Comments Part of: Human variation panel.
Population: Caucasian; Greek.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4827; HBB; Simple; c.92+6T>C (IVS1,T>C,+6) (IVS I-6 T>C); ClinVar=VCV000015450; Zygosity=Heterozygous (Coriell=GM07428).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; c.316-106C>G (IVS2,C>G,+745); ClinVar=VCV000015457; Zygosity=Heterozygous (Coriell=GM07428).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 33Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM07428
Coriell; GM17047
Coriell; GM17376
Cell line databases/resources CLO; CLO_0013701
CLO; CLO_0014639
CLO; CLO_0016895
Encyclopedic resources Wikidata; Q54842749
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number19