ID   EUFA166
AC   CVCL_G059
SY   93VU166
DR   Wikidata; Q54832893
RX   PubMed=7662964;
RX   PubMed=10468606;
CC   Sequence variation: Mutation; HGNC; HGNC:3584; FANCC; Simple; p.Asp23Ilefs*23 (c.67delG) (322delG); ClinVar=VCV000012049; Zygosity=Homozygous (PubMed=10468606).
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)
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 14
//
RX   PubMed=7662964; DOI=10.1182/blood.V86.6.2156.bloodjournal8662156;
RA   Joenje H., Lo ten Foe J.R., Oostra A.B., van Berkel C.G.M.,
RA   Rooimans M.A., Schroeder-Kurth T.M., Wegner R.-D., Gille J.J.P.,
RA   Buchwald M., Arwert F.;
RT   "Classification of Fanconi anemia patients by complementation
RT   analysis: evidence for a fifth genetic subtype.";
RL   Blood 86:2156-2160(1995).
//
RX   PubMed=10468606; DOI=10.1073/pnas.96.18.10320; PMCID=PMC17886;
RA   Waisfisz Q., de Winter J.P., Kruyt F.A.E., de Groot J., van der Weel L.,
RA   Dijkmans L.M., Zhi Y., Arwert F., Scheper R.J., Youssoufian H.,
RA   Hoatlin M.E., Joenje H.;
RT   "A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and
RT   FANCA.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:10320-10325(1999).
//