ID   XP42RO-hTERT
AC   CVCL_ZP58
DR   Wikidata; Q98135818
RX   PubMed=30165384;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=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; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZP20 ! XP42RO
SX   Male
AG   62Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//