ID   GM16633
AC   CVCL_G042
SY   PD20 hygro; PD.20hygro; PD-20; PD20
DR   CLO; CLO_0017357
DR   Coriell; GM16633
DR   Wikidata; Q54848676
RX   PubMed=7581463;
RX   PubMed=12361951;
CC   Sequence variation: Mutation; HGNC; 3585; FANCD2; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000012039; Zygosity=Heterozygous; Note=Also causes abnormal splicing (Coriell=GM16633).
CC   Sequence variation: Mutation; HGNC; 3585; FANCD2; Simple; p.Arg1236His (c.3707G>A); ClinVar=VCV000012038; Zygosity=Heterozygous (Coriell=GM16633).
CC   Transfected with: UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125706; Fanconi anemia, complementation group D2
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_G041 ! GM16756
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 20
//
RX   PubMed=7581463; DOI=10.1038/ng1195-341;
RA   Whitney M., Thayer M., Reifsteck C., Olson S., Smith L., Jakobs P.M.,
RA   Leach R.J., Naylor S.L., Joenje H., Grompe M.;
RT   "Microcell mediated chromosome transfer maps the Fanconi anaemia group
RT   D gene to chromosome 3p.";
RL   Nat. Genet. 11:341-343(1995).
//
RX   PubMed=12361951; DOI=10.1074/jbc.M207937200;
RA   Donahue S.L., Campbell C.;
RT   "A DNA double strand break repair defect in Fanconi anemia
RT   fibroblasts.";
RL   J. Biol. Chem. 277:46243-46247(2002).
//