ID   GM00449
AC   CVCL_F125
SY   GM-449; GM449; GM0449A; GM 0449A; GM00449B
DR   CLO; CLO_0026103
DR   BioSample; SAMN00795078
DR   Coriell; GM00449
DR   Wikidata; Q54836235
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7994019;
RX   PubMed=19815695;
RX   PubMed=22282976;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM00449).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125704; Fanconi anemia, complementation group C
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 21
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995;
RA   Liu J.M., Buchwald M., Walsh C.E., Young N.S.;
RT   "Fanconi anemia and novel strategies for therapy.";
RL   Blood 84:3995-4007(1994).
//
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).
//
RX   PubMed=22282976; DOI=10.1093/carcin/1.1.21;
RA   Day R.S. III, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A.,
RA   Mattern M.R.;
RT   "Human tumor cell strains defective in the repair of alkylation
RT   damage.";
RL   Carcinogenesis 1:21-32(1980).
//