ID   XPCS1RO hTERT
AC   CVCL_ZV78
DR   Wikidata; Q98136286
RX   PubMed=30165384;
CC   Population: Caucasian; Moroccan.
CC   Sequence variation: Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Gly926Profs (c.2775delT) (2972delT); ClinVar=VCV000016568; Zygosity=Unspecified (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_ZP68 ! XPCS1RO
SX   Male
AG   7M
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
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).
//