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Cellosaurus XP115LO 2 hTERT (CVCL_ZS67)

[Text version]
Cell line name XP115LO 2 hTERT
Synonyms hTERT-GM02359; GM02359-hTERT; hTERT-XPV; XP115LO.hTERT
Accession CVCL_ZS67
Resource Identification Initiative To cite this cell line use: XP115LO 2 hTERT (RRID:CVCL_ZS67)
Comments Population: Iranian.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; 11730; TERT.
Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (from parent cell line).
Disease Xeroderma pigmentosum variant type (NCIt: C141367)
Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7358 (XP115LO 2)
Sex of cell Male
Age at sampling 25Y
Category Telomerase immortalized cell line
Publications

PubMed=10655550; DOI=10.1093/hmg/9.3.403
Ouellette M.M., McDaniel L.D., Wright W.E., Shay J.W., Schultz R.A.
The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes.
Hum. Mol. Genet. 9:403-411(2000)

PubMed=17409408; DOI=10.1158/0008-5472.CAN-06-3073
Wang Y., Woodgate R., McManus T.P., Mead S., McCormick J.J., Maher V.M.
Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations.
Cancer Res. 67:3018-3026(2007)

Cross-references
Encyclopedic resources Wikidata; Q98135228
Entry history
Entry creation02-Jul-2020
Last entry update10-Sep-2024
Version number7