Cellosaurus logo
expasy logo

Cellosaurus GM12794 (CVCL_AK34)

[Text version]
Cell line name GM12794
Synonyms GM 12794
Accession CVCL_AK34
Resource Identification Initiative To cite this cell line use: GM12794 (RRID:CVCL_AK34)
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; 3584; FANCC; Simple; p.Asp23Ilefs*23 (c.67delG) (322delG); ClinVar=VCV000012049; Zygosity=Unspecified (Coriell=GM12794).
Disease Fanconi anemia, complementation group C (NCIt: C125704)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Transformed cell line
Publications

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references
Cell line collections (Providers) Coriell; GM12794
Cell line databases/resources CLO; CLO_0022628
Encyclopedic resources Wikidata; Q54846063
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number11