ID   XPCS1CD
AC   CVCL_ZP66
DR   Wikidata; Q98136281
RX   PubMed=23623389;
RX   PubMed=30165384;
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Cys236Arg (c.706T>C); ClinVar=VCV000055827; Zygosity=Heterozygous (PubMed=23623389).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg589Trp (c.1765C>T); ClinVar=VCV000055829; Zygosity=Heterozygous (PubMed=23623389).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=23623389; DOI=10.1016/j.ajhg.2013.04.007; PMCID=PMC3644632;
RA   Kashiyama K., Nakazawa Y., Pilz D.T., Guo C.-W., Shimada M., Sasaki K.,
RA   Fawcett H., Wing J.F., Lewin S.O., Carr L., Li T.-S., Yoshiura K.-i.,
RA   Utani A., Hirano A., Yamashita S., Greenblatt D., Nardo T.,
RA   Stefanini M., McGibbon D., Sarkany R.P.E., Fassihi H., Takahashi Y.,
RA   Nagayama Y., Mitsutake N., Lehmann A.R., Ogi T.;
RT   "Malfunction of nuclease ERCC1-XPF results in diverse clinical
RT   manifestations and causes Cockayne syndrome, xeroderma pigmentosum,
RT   and Fanconi anemia.";
RL   Am. J. Hum. Genet. 92:807-819(2013).
//
RX   PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131;
RA   Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K.,
RA   Voskamp C., Lans H., Vermeulen W.;
RT   "Repair protein persistence at DNA lesions characterizes XPF defect
RT   with Cockayne syndrome features.";
RL   Nucleic Acids Res. 46:9563-9577(2018).
//