ID   CS2SE
AC   CVCL_ZN64
SY   Cockayne Syndrome 2 SEndai
DR   Wikidata; Q98125746
RX   PubMed=7513056;
RX   PubMed=12655141;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Gln106Pro (c.317A>C); Zygosity=Heterozygous (PubMed=12655141).
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Heterozygous (PubMed=12655141).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
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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=12655141; DOI=10.1266/ggs.78.93;
RA   Ren Y., Saijo M., Nakatsu Y., Nakai H., Yamaizumi M., Tanaka K.;
RT   "Three novel mutations responsible for Cockayne syndrome group A.";
RL   Genes Genet. Syst. 78:93-102(2003).
//