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Cellosaurus GM07469 (CVCL_X466)

[Text version]
Cell line name GM07469
Synonyms GM07469A
Accession CVCL_X466
Resource Identification Initiative To cite this cell line use: GM07469 (RRID:CVCL_X466)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM07469).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Arg553Ter (c.1657C>T); ClinVar=VCV000007122; Zygosity=Heterozygous (Coriell=GM07469).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
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) 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; GM07469
Cell line databases/resources CLO; CLO_0016488
Encyclopedic resources Wikidata; Q54842780
Entry history
Entry creation05-Sep-2014
Last entry update30-Jan-2024
Version number14