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Cellosaurus GM07381 (CVCL_0M49)

[Text version]
Cell line name GM07381
Accession CVCL_0M49
Resource Identification Initiative To cite this cell line use: GM07381 (RRID:CVCL_0M49)
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=GM07381).
  • Mutation; HGNC; 1884; CFTR; Simple; c.3718-2477C>T (3849+10KB,C>T); ClinVar=VCV000007166; Zygosity=Heterozygous (Coriell=GM07381).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
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; GM07381
Cell line databases/resources CLO; CLO_0016929
Encyclopedic resources Wikidata; Q54842704
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16