ID   GM16756
AC   CVCL_G041
SY   PD20.L; PD.20i; PD20
DR   CLO; CLO_0018426
DR   Coriell; GM16756
DR   Wikidata; Q54848727
RX   PubMed=12361951;
RX   PubMed=16166284;
CC   Sequence variation: Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000012039; Zygosity=Heterozygous; Note=Also causes abnormal splicing (Coriell=GM16756).
CC   Sequence variation: Mutation; HGNC; HGNC:3585; FANCD2; Simple; p.Arg1236His (c.3707G>A); ClinVar=VCV000012038; Zygosity=Heterozygous (Coriell=GM16756).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125706; Fanconi anemia, complementation group D2
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_G042 ! GM16633
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 18
//
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).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//