ID   GM04510
AC   CVCL_G039
SY   GM4510; GM04510B; GM4510B; GM04510C
DR   CLO; CLO_0018829
DR   Coriell; GM04510
DR   Wikidata; Q54838550
RX   CelloPub=CLPUB00447;
RX   PubMed=2805228;
RX   PubMed=3180052;
RX   PubMed=10468606;
CC   Sequence variation: Mutation; HGNC; 3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM04510).
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   5Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=2805228; DOI=10.1093/carcin/10.11.2067;
RA   Arita I., Tachibana A., Takebe H., Tatsumi K.;
RT   "Predominance of Mex+ cells in newly-established human lymphoblastoid
RT   cell lines.";
RL   Carcinogenesis 10:2067-2073(1989).
//
RX   PubMed=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
//
RX   PubMed=10468606; DOI=10.1073/pnas.96.18.10320;
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).
//