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Cellosaurus AG03199 (CVCL_L616)

[Text version]
Cell line name AG03199
Synonyms AG 3199; AG3199
Accession CVCL_L616
Resource Identification Initiative To cite this cell line use: AG03199 (RRID:CVCL_L616)
Comments Population: Caucasian.
Derived from site: In situ; Hip, skin; UBERON=UBERON_0001554.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (from autologous cell line AG03259).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YM60 (AG27590)
Originate from same individual CVCL_L614 ! AG03198
CVCL_L617 ! AG03259
Sex of cell Female
Age at sampling 10Y8M
Category Finite cell line
Publications

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981)

PubMed=7176709; DOI=10.1016/0047-6374(82)90061-6
Tollefsbol T.O., Zaun M.R., Gracy R.W.
Increased lability of triosephosphate isomerase in progeria and Werner's syndrome fibroblasts.
Mech. Ageing Dev. 20:93-101(1982)

PubMed=8246632; DOI=10.1016/0047-6374(93)90046-T
Giro M.G., Davidson J.M.
Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria.
Mech. Ageing Dev. 70:163-176(1993)

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=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; AG03199
Cell line databases/resources CLO; CLO_0036984
Encyclopedic resources Wikidata; Q54609728
Entry history
Entry creation06-May-2013
Last entry update29-Jun-2023
Version number17