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Cellosaurus hTERT-WRN1 (CVCL_ZS69)

[Text version]
Cell line name hTERT-WRN1
Accession CVCL_ZS69
Resource Identification Initiative To cite this cell line use: hTERT-WRN1 (RRID:CVCL_ZS69)
Comments Population: Caucasian; Spanish.
Transfected with: HGNC; 11730; TERT.
Transfected with: 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; 12791; WRN; Simple; p.Gln748Ter (c.2242C>T) (2476C>T); ClinVar=VCV000835212; Zygosity=Homozygous (from parent cell line).
Disease Werner syndrome (NCIt: C3447)
Werner syndrome (ORDO: Orphanet_902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_X767 (AG03141)
Sex of cell Female
Age at sampling 29Y11M
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)

Cross-references
Encyclopedic resources Wikidata; Q98126742
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7