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Cellosaurus GM11370 (CVCL_0N11)

[Text version]
Cell line name GM11370
Accession CVCL_0N11
Resource Identification Initiative To cite this cell line use: GM11370 (RRID:CVCL_0N11)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
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.Ile105Serfs*2 (c.313delA) (444delA); ClinVar=VCV000048684; Zygosity=Heterozygous (Coriell=GM11370).
  • Mutation; HGNC; 1884; CFTR; Simple; c.1680-1G>A (IVS11-1G>A) (1812-1G-A); ClinVar=VCV000048681; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11370).
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 Age unspecified
Category Transformed cell line
Publications

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149
Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.
Development of genomic reference materials for cystic fibrosis genetic testing.
J. Mol. Diagn. 11:186-193(2009)

Cross-references
Cell line collections (Providers) Coriell; GM11370
Cell line databases/resources CLO; CLO_0026074
Encyclopedic resources Wikidata; Q54845037
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number15