ID   UVs1KO
AC   CVCL_ZP07
DR   Wikidata; Q98134428
RX   PubMed=7264357;
RX   PubMed=8763445;
RX   PubMed=15486090;
RX   PubMed=21143350;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (PubMed=15486090).
CC   Misspelling: US81KO; PubMed=7264357; Note=In abstract.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173106; UV-sensitive syndrome 1
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=7264357; DOI=10.1111/1523-1747.ep12482447;
RA   Fujiwara Y., Ichihashi M., Kano Y., Goto K., Shimizu K.;
RT   "A new human photosensitive subject with a defect in the recovery of
RT   DNA synthesis after ultraviolet-light irradiation.";
RL   J. Invest. Dermatol. 77:256-263(1981).
//
RX   PubMed=8763445; DOI=10.1046/j.1365-2133.1996.d01-922.x;
RA   Itoh T., Yamaizumi M., Ichihashi M., Hiro-Oka M., Matsui T.,
RA   Matsuno M., Ono T.;
RT   "Clinical characteristics of three patients with UVs syndrome, a
RT   photosensitive disorder with defective DNA repair.";
RL   Br. J. Dermatol. 134:1147-1150(1996).
//
RX   PubMed=15486090; DOI=10.1073/pnas.0404587101; PMCID=PMC524447;
RA   Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G.J., Kurimasa A.,
RA   Oshimura M., Ichihashi M., Tanaka K.;
RT   "Complete absence of Cockayne syndrome group B gene product gives rise
RT   to UV-sensitive syndrome but not Cockayne syndrome.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:15410-15415(2004).
//
RX   PubMed=21143350; DOI=10.1111/j.1365-2443.2010.01467.x;
RA   Horibata K., Saijo M., Bay M.N., Lan L., Kuraoka I., Brooks P.J.,
RA   Honma M., Nohmi T., Yasui A., Tanaka K.;
RT   "Mutant Cockayne syndrome group B protein inhibits repair of DNA
RT   topoisomerase I-DNA covalent complex.";
RL   Genes Cells 16:101-114(2011).
//