Cellosaurus logo
expasy logo

Cellosaurus AG10677 (CVCL_0Q95)

[Text version]
Cell line name AG10677
Accession CVCL_0Q95
Resource Identification Initiative To cite this cell line use: AG10677 (RRID:CVCL_0Q95)
Comments Population: Caucasian; English/Irish.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Glu145Lys (c.433G>A); ClinVar=VCV000014502; Zygosity=Heterozygous (PubMed=12714972).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=12714972; DOI=10.1038/nature01629
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

PubMed=15130666; DOI=10.1016/j.exger.2004.02.002
Bridger J.M., Kill I.R.
Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis.
Exp. Gerontol. 39:717-724(2004)

Cross-references
Cell line collections (Providers) Coriell; AG10677
Cell line databases/resources CLO; CLO_0021497
Encyclopedic resources Wikidata; Q54743464
Entry history
Entry creation08-Jul-2015
Last entry update29-Jun-2023
Version number12