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Cellosaurus PORTU8010 fibroblast hTERT (CVCL_A9G0)

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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-PuroR-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; 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: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
Bidisha Saha, Galynn Zitnik, Simon Johnson, Quyen Nguyen, Rosa Ana Risques, George M. Martin, Junko Oshima;
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 update14-Aug-2025
Version number9