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Cellosaurus PORTU8010 fibroblast hTERT (CVCL_A9G0)

[Text version]
Cell line name PORTU8010 fibroblast hTERT
Synonyms R133L hTERT
Accession CVCL_A9G0
Resource Identification Initiative To cite this cell line use: PORTU8010 fibroblast hTERT (RRID:CVCL_A9G0)
Comments Population: Caucasian.
Characteristics: Transduced with a lentiviral vector containing a LTR-loxP-hTERT-SV40p-hisD-Pac-LTR construct.
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P06988; Escherichia coli hisD.
Genetic integration: Method=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; HGNC:6636; LMNA; Simple; p.Arg133Leu (c.398G>T); ClinVar=VCV000014488; Zygosity=Heterozygous; Note=De novo mutation (PubMed=23847654).
Disease Werner syndrome (NCIt: C3447)
Atypical Werner syndrome (ORDO: Orphanet_79474)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A9F9 (PORTU8010 fibroblast)
Sex of cell Female
Age at sampling 18Y
Category Telomerase immortalized cell line
Publications

PubMed=23847654; DOI=10.3389/fgene.2013.00129; PMCID=PMC3701863
Saha B., Zitnik G., Johnson S., Nguyen Q., Risques R.A., Martin G.M., Oshima J.
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations.
Front. Genet. 4:129.1-129.12(2013)

Cross-references
Encyclopedic resources Wikidata; Q102114782
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8