ID   hTERT-GM01389
AC   CVCL_ZS66
SY   hTERT-XPE
DR   Wikidata; Q98126741
RX   PubMed=10655550;
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Asn349del (c.1045_1047del); ClinVar=VCV002137064; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; 11730; TERT.
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114771; Xeroderma pigmentosum, complementation group E
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F028 ! GM01389
SX   Female
AG   21Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 8
//
RX   PubMed=10655550; DOI=10.1093/hmg/9.3.403;
RA   Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.;
RT   "The establishment of telomerase-immortalized cell lines representing
RT   human chromosome instability syndromes.";
RL   Hum. Mol. Genet. 9:403-411(2000).
//