Cellosaurus cell line NORWAY1010 fibroblast hTERT (CVCL

Cellosaurus NORWAY1010 fibroblast hTERT (CVCL_A9F7)

Cross-references
Cell line name	NORWAY1010 fibroblast hTERT
Synonyms	L140R hTERT
Accession	CVCL_A9F7
Resource Identification Initiative	To cite this cell line use: NORWAY1010 fibroblast hTERT (RRID:CVCL_A9F7)
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.Leu140Arg (c.419T>G); ClinVar=VCV000014507; Zygosity=Heterozygous (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_A9F6 (NORWAY1010 fibroblast)
Sex of cell	Male
Age at sampling	34Y
Category	Finite 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)
Encyclopedic resources	Wikidata; Q102114657
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8