ID   XP115LO 2 hTERT
AC   CVCL_ZS67
SY   hTERT-GM02359; GM02359-hTERT; hTERT-XPV; XP115LO.hTERT
DR   Wikidata; Q98135228
RX   PubMed=10655550;
RX   PubMed=17409408;
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (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; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7358 ! XP115LO 2
SX   Male
AG   25Y
CA   Telomerase immortalized cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 7
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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).
//
RX   PubMed=17409408; DOI=10.1158/0008-5472.CAN-06-3073;
RA   Wang Y., Woodgate R., McManus T.P., Mead S., McCormick J.J.,
RA   Maher V.M.;
RT   "Evidence that in xeroderma pigmentosum variant cells, which lack DNA
RT   polymerase eta, DNA polymerase iota causes the very high frequency and
RT   unique spectrum of UV-induced mutations.";
RL   Cancer Res. 67:3018-3026(2007).
//