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Cellosaurus GM18800 (CVCL_0N27)

[Text version]
Cell line name GM18800
Accession CVCL_0N27
Resource Identification Initiative To cite this cell line use: GM18800 (RRID:CVCL_0N27)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM18800).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.1766+1G>A (1898+1G>A); ClinVar=VCV000007168; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM18800).
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 25Y
Category Transformed cell line
Publications

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335
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; GM18800
Cell line databases/resources CLO; CLO_0026221
Encyclopedic resources Wikidata; Q54849855
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16