Cellosaurus cell line PORTU8010 fibroblast (CVCL_A9F9)

Cellosaurus PORTU8010 fibroblast (CVCL_A9F9)

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Cell line name

PORTU8010 fibroblast

Synonyms

R133L

Accession

CVCL_A9F9

Resource Identification Initiative

To cite this cell line use: PORTU8010 fibroblast (RRID:CVCL_A9F9)

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.Arg133Leu (c.398G>T); ClinVar=VCV000014488; Zygosity=Heterozygous; Note=De novo mutation (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_A9G0 (PORTU8010 fibroblast hTERT)

Originate from same individual

CVCL_A9G1 ! PORTU8010 LCL

Sex of cell

Female

Age at sampling

18Y

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; Q102114781

Entry history

Entry creation

29-Oct-2020

Last entry update

19-Dec-2024

Version number

7