ID   Kps23M
AC   CVCL_ZT08
DR   Wikidata; Q98126838
RX   PubMed=7513056;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:29304; UVSSA; Simple; p.Lys123Ter (c.367A>T); ClinVar=VCV000031569; Zygosity=Heterozygous (from familial inference of Kps2; Kps3).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//