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Cellosaurus GM07407 (CVCL_N061)

[Text version]
Cell line name GM07407
Synonyms GM07407A; GM17325
Accession CVCL_N061
Resource Identification Initiative To cite this cell line use: GM07407 (RRID:CVCL_N061)
Comments Part of: Human variation panel.
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.92+1G>A (IVS1,G>A,+1); ClinVar=VCV000015436; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM07407).
  • Mutation; HGNC; 4827; HBB; Simple; c.92+6T>C (IVS1,T>C,+6) (IVS I-6 T>C); ClinVar=VCV000015450; Zygosity=Heterozygous (Coriell=GM07407).
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM07407
Coriell; GM17325
Cell line databases/resources CLO; CLO_0013637
CLO; CLO_0016909
Encyclopedic resources Wikidata; Q54842722
Entry history
Entry creation05-Nov-2013
Last entry update30-Jan-2024
Version number19