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Cellosaurus GM21551 (CVCL_0N46)

[Text version]
Cell line name GM21551
Accession CVCL_0N46
Resource Identification Initiative To cite this cell line use: GM21551 (RRID:CVCL_0N46)
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.Ile507Val (c.1519A>G); ClinVar=VCV000188863; Zygosity=Heterozygous; Note=Benign (PubMed=19359498).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=19359498).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
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; GM21551
Cell line databases/resources CLO; CLO_0014069
Encyclopedic resources Wikidata; Q54851983
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number16