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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; HGNC:1884; CFTR; Simple; p.Ile105Serfs*2 (c.313delA) (444delA); ClinVar=VCV000048684; Zygosity=Heterozygous (Coriell=GM11370).
  • Mutation; HGNC; 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; 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; GM11370
Cell line databases/resources CLO; CLO_0026074
Encyclopedic resources Wikidata; Q54845037
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16