• 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 (PubMed=12714972; Coriell=AG11498).
  

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=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076
Maria Eriksson, W. Ted Brown, Leslie Beth Gordon, Michael W. Glynn, Joel Singer, Laura Scott, Michael R. Erdos, Christiane M. Robbins, Tracy Y. Moses, Peter Berglund, Amalia Dutra ...Show all 17 authors... , Evgenia Pak, Sandra Durkin, Antonei Benjamin Csoka, Michael Boehnke, Thomas W. Glover, Francis Sellers Collins; Show fewer authors
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

PubMed=15268757; DOI=10.1111/j.1474-9728.2004.00105.x
Antonei Benjamin Csoka, Sangeeta B. English, Carl P. Simkevich, David G. Ginzinger, Atul Janardhan Butte, Gerald P. Schatten, Frank G. Rothman, John Michael Sedivy;
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
Michael W. Glynn, Thomas W. Glover;
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Hum. Mol. Genet. 14:2959-2969(2005)

PubMed=28855503; DOI=10.1038/s41467-017-00322-z; PMCID=PMC5577202
Abigail Buchwalter, Martin W. Hetzer;
Nucleolar expansion and elevated protein translation in premature aging.
Nat. Commun. 8:328.1-328.13(2017)