ID   GM17523
AC   CVCL_1K21
SY   99P0149
DR   CLO; CLO_0013052
DR   Coriell; GM17523
DR   Wikidata; Q54848959
RX   PubMed=11779494;
RX   PubMed=19896956;
CC   Sequence variation: Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Gly469Glu (c.1406G>A); ClinVar=VCV000007674; Zygosity=Heterozygous (PubMed=11779494).
CC   Sequence variation: Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg814Ter (c.2440C>T); ClinVar=VCV000007673; Zygosity=Heterozygous (PubMed=11779494).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C122657; LIG4 syndrome
DI   ORDO; Orphanet_99812; LIG4 syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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RX   PubMed=11779494; DOI=10.1016/S1097-2765(01)00408-7;
RA   O'Driscoll M., Cerosaletti K.M., Girard P.-M., Dai Y., Stumm M.,
RA   Kysela B., Hirsch B., Gennery A.R., Palmer S.E., Seidel J., Gatti R.A.,
RA   Varon R., Oettinger M.A., Neitzel H., Jeggo P.A., Concannon P.;
RT   "DNA ligase IV mutations identified in patients exhibiting
RT   developmental delay and immunodeficiency.";
RL   Mol. Cell 8:1175-1185(2001).
//
RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//