ID   411BR
AC   CVCL_A1TX
SY   411 BRighton
DR   Wikidata; Q105505930
RX   PubMed=11779494;
CC   Sequence variation: Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Ala3Val (c.8C>T); ClinVar=VCV000007676; Zygosity=Homozygous (PubMed=11779494).
CC   Sequence variation: Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Thr9Ile (c.26C>T); ClinVar=VCV000007677; Zygosity=Homozygous (PubMed=11779494).
CC   Sequence variation: Mutation; HGNC; HGNC:6601; LIG4; Simple; p.Arg278His (c.833G>A); ClinVar=VCV000007675; Zygosity=Homozygous (PubMed=11779494).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   Sex unspecified
AG   9Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
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).
//