ID   NORWAY1010 fibroblast hTERT
AC   CVCL_A9F7
SY   L140R hTERT
DR   Wikidata; Q102114657
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.Leu140Arg (c.419T>G); ClinVar=VCV000014507; Zygosity=Heterozygous (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_A9F6 ! NORWAY1010 fibroblast
SX   Male
AG   34Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
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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).
//