ID   XP51RO-hTERT
AC   CVCL_ZP56
DR   Wikidata; Q98135910
RX   PubMed=14690602;
CC   Population: Afghan.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg153Pro (c.458G>C); ClinVar=VCV000016581; 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; C173111; XFE progeroid syndrome
DI   ORDO; Orphanet_363245; Genetic progeroid syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZP55 ! XP51RO
SX   Male
AG   15Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=14690602; DOI=10.1016/S1097-2765(03)00478-7;
RA   Zhu X.-D., Niedernhofer L.J., Kuster B., Mann M., Hoeijmakers J.H.J.,
RA   de Lange T.;
RT   "ERCC1/XPF removes the 3' overhang from uncapped telomeres and
RT   represses formation of telomeric DNA-containing double minute
RT   chromosomes.";
RL   Mol. Cell 12:1489-1498(2003).
//