ID   CS3AM
AC   CVCL_ZP09
DR   Wikidata; Q98125749
RX   PubMed=9777763;
RX   PubMed=21143350;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (PubMed=21143350).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173106; UV-sensitive syndrome 1
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=9777763; DOI=10.1016/S0190-9622(98)70005-2;
RA   Miyauchi-Hashimoto H., Akaeda T., Maihara T., Ikenaga M., Horio T.;
RT   "Cockayne syndrome without typical clinical manifestations including
RT   neurologic abnormalities.";
RL   J. Am. Acad. Dermatol. 39:565-570(1998).
//
RX   PubMed=21143350; DOI=10.1111/j.1365-2443.2010.01467.x;
RA   Horibata K., Saijo M., Bay M.N., Lan L., Kuraoka I., Brooks P.J.,
RA   Honma M., Nohmi T., Yasui A., Tanaka K.;
RT   "Mutant Cockayne syndrome group B protein inhibits repair of DNA
RT   topoisomerase I-DNA covalent complex.";
RL   Genes Cells 16:101-114(2011).
//