• Mutation; HGNC; 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 (Coriell=AG10750).
  

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

PubMed=10741968; DOI=10.1126/science.287.5462.2486
Ly D.H., Lockhart D.J., Lerner R.A., Schultz P.G.
Mitotic misregulation and human aging.
Science 287:2486-2492(2000)

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)

PubMed=15268757; DOI=10.1111/j.1474-9728.2004.00105.x
Csoka A.B., English S.B., Simkevich C.P., Ginzinger D.G., Butte A.J., Schatten G.P., Rothman F.G., Sedivy J.M.
Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis.
Aging Cell 3:235-243(2004)

PubMed=16126733; DOI=10.1093/hmg/ddi326
Glynn M.W., Glover T.W.
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
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