ID   CS2AW
AC   CVCL_2879
DR   BioSample; SAMN03471618
DR   JCRB; JCRB0310
DR   JCRB; KURB1889
DR   Wikidata; Q54814538
RX   DOI=10.11251/ojjscn1969.10.465;
RX   PubMed=12655141;
RX   PubMed=22466610;
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=JCRB0310
ST   Amelogenin: X
ST   CSF1PO: 10,13
ST   D13S317: 10,12
ST   D16S539: 9,10
ST   D5S818: 11,13
ST   D7S820: 11
ST   TH01: 7,10
ST   TPOX: 11
ST   vWA: 14,17
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
//
RX   DOI=10.11251/ojjscn1969.10.465;
RA   Hashimoto T., Hiura K., Kobayashi Y., Kawano N., Takahashi T.,
RA   Endo S., Fukuda K.;
RT   "Cockayne's syndrome: report of two sisters and review of literature in
RT   Japan.";
RL   No To Hattatsu 10:465-472(1978).
//
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).
//
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).
//