ID   Kps2
AC   CVCL_ZP16
DR   Wikidata; Q98126835
RX   PubMed=7513056;
RX   PubMed=8763445;
RX   PubMed=22466610;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Homozygous (PubMed=22466610).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173107; UV-sensitive syndrome 3
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=7513056; DOI=10.1016/0921-8777(94)90068-x;
RA   Itoh T., Ono T., Yamaizumi M.;
RT   "A new UV-sensitive syndrome not belonging to any complementation
RT   groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing
RT   biochemical characteristics of Cockayne syndrome without typical
RT   clinical manifestations.";
RL   Mutat. Res. 314:233-248(1994).
//
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=22466610; DOI=10.1038/ng.2229;
RA   Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M.,
RA   Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M.,
RA   Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H.,
RA   Utani A., Tateishi S., Yamashita S., Stefanini M., Lehmann A.R.,
RA   Yoshiura K.-i., Ogi T.;
RT   "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA
RT   polymerase IIo processing in transcription-coupled nucleotide-excision
RT   repair.";
RL   Nat. Genet. 44:586-592(2012).
//