ID   CS2OS
AC   CVCL_2881
SY   Cockayne Syndrome 2 OSaka
DR   BioSample; SAMN03471617
DR   JCRB; JCRB0309
DR   JCRB; KURB1900
DR   Wikidata; Q54814546
RX   PubMed=12655141;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asp93Leufs*26 (Ex4del); Zygosity=Homozygous (PubMed=12655141).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0309
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 8,9
ST   D16S539: 9
ST   D5S818: 13
ST   D7S820: 11
ST   TH01: 7
ST   TPOX: 11,13
ST   vWA: 16
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Fetus
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
//
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).
//