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Cellosaurus GM12794 (CVCL_AK34)

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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; 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; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine Hellenga Toji, Kasinathan Muralidharan; Show fewer authors
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 update19-Dec-2024
Version number12