Cellosaurus cell line NORWAY1010 fibroblast (CVCL

Cellosaurus NORWAY1010 fibroblast (CVCL_A9F6)

[Text version]

Cell line name

NORWAY1010 fibroblast

Synonyms

L140R

Accession

CVCL_A9F6

Resource Identification Initiative

To cite this cell line use: NORWAY1010 fibroblast (RRID:CVCL_A9F6)

Comments

Population: Caucasian.
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=12927431; PubMed=23847654).

Disease

Werner syndrome (NCIt: C3447)
Atypical Werner syndrome (ORDO: Orphanet_79474)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_A9F7 (NORWAY1010 fibroblast hTERT)

Originate from same individual

CVCL_A9F8 ! NORWAY1010 LCL

Sex of cell

Male

Age at sampling

34Y

Category

Finite cell line

Publications

PubMed=12927431; DOI=10.1016/S0140-6736(03)14069-X
Li-Shan Chen, Lin Lee, Brian A. Kudlow, Heloisa Goncalves dos Santos, Olav Sletvold, Yousef Shafeghati, Eleanor G. Botha, Abhimanyu Garg, Nancy B. Hanson, George M. Martin, I. Saira Mian ...Show all 13 authors... , Brian Keith Kennedy, Junko Oshima; Show fewer authors
LMNA mutations in atypical Werner's syndrome.
Lancet 362:440-445(2003)

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; Q102114656

Entry history

Entry creation

29-Oct-2020

Last entry update

19-Dec-2024

Version number