ID   2BN
AC   CVCL_8087
DR   BTO; BTO_0004321
DR   Wikidata; Q54584316
RX   PubMed=12604777;
RX   PubMed=19056826;
CC   Sequence variation: Mutation; HGNC; HGNC:25737; NHEJ1; Simple; p.Glu5Glyfs*43 (c.11dupT) (ins11T); ClinVar=VCV000000985; Zygosity=Homozygous (PubMed=19056826).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162695; Severe combined immunodeficiency due to NHEJ1 deficiency
DI   ORDO; Orphanet_169079; Cernunnos-XLF deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 15
//
RX   PubMed=12604777; DOI=10.1073/pnas.0437964100; PMCID=PMC151363;
RA   Dai Y., Kysela B., Hanakahi L.A., Manolis K., Riballo E., Stumm M.,
RA   Harville T.O., West S.C., Oettinger M.A., Jeggo P.A.;
RT   "Nonhomologous end joining and V(D)J recombination require an
RT   additional factor.";
RL   Proc. Natl. Acad. Sci. U.S.A. 100:2462-2467(2003).
//
RX   PubMed=19056826; DOI=10.1093/nar/gkn957; PMCID=PMC2632933;
RA   Riballo E., Woodbine L., Stiff T., Walker S.A., Goodarzi A.A.,
RA   Jeggo P.A.;
RT   "XLF-Cernunnos promotes DNA ligase IV-XRCC4 re-adenylation following
RT   ligation.";
RL   Nucleic Acids Res. 37:482-492(2009).
//