ID   F07/402
AC   CVCL_WX38
DR   Wikidata; Q93547672
RX   PubMed=19056826;
RX   PubMed=23818183;
CC   Sequence variation: Mutation; HGNC; HGNC:25737; NHEJ1; Simple; p.Arg57Ter (c.169C>T); ClinVar=VCV001323363; Zygosity=Homozygous (PubMed=19056826; PubMed=23818183).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=23818183
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 9,13
ST   D16S539: 11,12
ST   D18S51: 10,20
ST   D21S11: 30.2,31
ST   D3S1358: 16,17
ST   D5S818: 11
ST   D7S820: 11
ST   D8S1179: 14,16
ST   FGA: 21,25
ST   Penta D: 9
ST   Penta E: 15
ST   TH01: 6,10
ST   TPOX: 8,11
ST   vWA: 17
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   Male
AG   2Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
//
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).
//
RX   PubMed=23818183; DOI=10.1002/stem.1456;
RA   Tilgner K., Neganova I.E., Singhapol C., Saretzki G., Al-Aama J.Y.,
RA   Evans J., Gorbunova V., Gennery A.R., Przyborski S., Stojkovic M.,
RA   Armstrong L., Jeggo P.A., Lako M.;
RT   "Brief report: a human induced pluripotent stem cell model of
RT   cernunnos deficiency reveals an important role for XLF in the survival
RT   of the primitive hematopoietic progenitors.";
RL   Stem Cells 31:2015-2023(2013).
//