• Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu145Lys (c.433G>A); ClinVar=VCV000014502; Zygosity=Heterozygous (PubMed=12714972).
  

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