ID   Kps3
AC   CVCL_ZP15
DR   Wikidata; Q98126839
RX   PubMed=7513056;
RX   PubMed=8763445;
RX   PubMed=19329487;
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   Omics: Deep exome analysis.
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   Female
AG   11Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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).
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RX   PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150;
RA   Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P.,
RA   Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A.,
RA   Stefanini M.;
RT   "A UV-sensitive syndrome patient with a specific CSA mutation reveals
RT   separable roles for CSA in response to UV and oxidative DNA damage.";
RL   Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009).
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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).
//