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Cellosaurus GM07444 (CVCL_BT20)

[Text version]
Cell line name GM07444
Accession CVCL_BT20
Resource Identification Initiative To cite this cell line use: GM07444 (RRID:CVCL_BT20)
Comments 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.315+1G>A (IVS2,G>A,+1); ClinVar=VCV000015438; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM07444).
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 15Y
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; GM07444
Cell line databases/resources CLO; CLO_0016877
Encyclopedic resources Wikidata; Q54842761
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number17