ID   EUFA121
AC   CVCL_G040
SY   EUFA121L; GM16757
DR   CLO; CLO_0018433
DR   EFO; EFO_0022589
DR   Coriell; GM16757
DR   Wikidata; Q54832884
RX   PubMed=11001585;
RX   PubMed=12065746;
CC   Sequence variation: Mutation; HGNC; HGNC:3587; FANCF; Simple; p.Gln6Ter (c.16C>T); ClinVar=VCV000006342; Zygosity=Heterozygous (Coriell=GM16757).
CC   Sequence variation: Mutation; HGNC; HGNC:3587; FANCF; Simple; p.Gly120Profs*17 (c.351_397del47) (349_395del); ClinVar=VCV000006341; Zygosity=Heterozygous (Coriell=GM16757).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125707; Fanconi anemia, complementation group F
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 18
//
RX   PubMed=11001585; DOI=10.1016/S0002-9297(07)62959-0; PMCID=PMC1288571;
RA   de Winter J.P., Leveille F., van Berkel C.G.M., Rooimans M.A.,
RA   van der Weel L., Steltenpool J., Demuth I., Morgan N.V., Alon N.,
RA   Bosnoyan-Collins L., Lightfoot J., Leegwater P.A.J., Waisfisz Q.,
RA   Komatsu K., Arwert F., Pronk J.C., Mathew C.G., Digweed M.,
RA   Buchwald M., Joenje H.;
RT   "Isolation of a cDNA representing the Fanconi anemia complementation
RT   group E gene.";
RL   Am. J. Hum. Genet. 67:1306-1308(2000).
//
RX   PubMed=12065746; DOI=10.1126/science.1073834;
RA   Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q.,
RA   de Die-Smulders C.E.M., Persky N., Grompe M., Joenje H., Pals G.,
RA   Ikeda H., Fox E.A., D'Andrea A.D.;
RT   "Biallelic inactivation of BRCA2 in Fanconi anemia.";
RL   Science 297:606-609(2002).
//