ID   CS20LO
AC   CVCL_ZP67
SY   Cockayne Syndrome 20 LOndon
DR   Wikidata; Q98125734
RX   PubMed=23623389;
CC   Sequence variation: Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Phe231Leu (c.693C>G); ClinVar=VCV000016778; Zygosity=Homozygous (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   1-2Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
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).
//