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Cellosaurus GM08345 (CVCL_V218)

[Text version]
Cell line name GM08345
Accession CVCL_V218
Resource Identification Initiative To cite this cell line use: GM08345 (RRID:CVCL_V218)
Comments Population: Caucasian.
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.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=19359498).
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 26Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

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; GM08345
Cell line databases/resources CLO; CLO_0010579
Biological sample resources BioSample; SAMN00798022
Encyclopedic resources Wikidata; Q54843161
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number17