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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
Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene M. Buller-Burckle, Lisa DiAntonio, William Edward Highsmith Jr., Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M. Rohlfs, Jack C. Tarleton, Lorraine H. Toji ...Show all 13 authors... , Shannon D. Barker, Lisa V. Kalman; Show fewer authors
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