ID   PORTU8010 fibroblast hTERT
AC   CVCL_A9G0
SY   R133L hTERT
DR   Wikidata; Q102114782
RX   PubMed=23847654;
CC   Population: Caucasian.
CC   Characteristics: Transduced with a lentiviral vector containing a LTR-loxP-hTERT-SV40p-hisD-Pac-LTR construct.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Arg133Leu (c.398G>T); ClinVar=VCV000014488; Zygosity=Heterozygous; Note=De novo mutation (PubMed=23847654).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P06988; Escherichia coli hisD.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_79474; Atypical Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9F9 ! PORTU8010 fibroblast
SX   Female
AG   18Y
CA   Telomerase immortalized cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=23847654; DOI=10.3389/fgene.2013.00129; PMCID=PMC3701863;
RA   Saha B., Zitnik G., Johnson S., Nguyen Q., Risques R.A., Martin G.M.,
RA   Oshima J.;
RT   "DNA damage accumulation and TRF2 degradation in atypical Werner
RT   syndrome fibroblasts with LMNA mutations.";
RL   Front. Genet. 4:129.1-129.12(2013).
//