ID   GM12794
AC   CVCL_AK34
SY   GM 12794
DR   CLO; CLO_0022628
DR   Coriell; GM12794
DR   Wikidata; Q54846063
RX   PubMed=19815695;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 3584; FANCC; Simple; p.Asp23Ilefs*23 (c.67delG) (322delG); ClinVar=VCV000012049; Zygosity=Unspecified (Coriell=GM12794).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125704; Fanconi anemia, complementation group C
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 11
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050;
RA   Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J.,
RA   Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M.,
RA   Payeur T.L., Sellers T., Toji L.H., Muralidharan K.;
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//