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Cellosaurus GM07426 (CVCL_N062)

[Text version]
Cell line name GM07426
Synonyms GM17014
Accession CVCL_N062
Resource Identification Initiative To cite this cell line use: GM07426 (RRID:CVCL_N062)
Comments Part of: Human variation panel.
Population: Chinese.
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; p.Ser73Lysfs*2 (c.217dupA) (c.216_217insA) (insA codons71/72); ClinVar=VCV000015419; Zygosity=Heterozygous (Coriell=GM07426).
  • Mutation; HGNC; HGNC:4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (Coriell=GM07426).
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 4Y
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; GM07426
Coriell; GM17014
Cell line databases/resources CLO; CLO_0016882
CLO; CLO_0018028
Encyclopedic resources Wikidata; Q54842747
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number19