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Cellosaurus hTERT-GM01389 (CVCL_ZS66)

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Cell line name hTERT-GM01389
Synonyms hTERT-XPE
Accession CVCL_ZS66
Resource Identification Initiative To cite this cell line use: hTERT-GM01389 (RRID:CVCL_ZS66)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; Streptomyces alboniger pac (PuroR).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Asn349del (c.1045_1047del); ClinVar=VCV002137064; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Leu350Pro (c.1049T>C); ClinVar=VCV002137065; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group E (NCIt: C114771)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F028 (GM01389)
Sex of cell Female
Age at sampling 21Y
Category Telomerase immortalized cell line
Publications

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

Cross-references
Encyclopedic resources Wikidata; Q98126741
Entry history
Entry creation02-Jul-2020
Last entry update14-Aug-2025
Version number10