• 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; PubMed=12768443).
  

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

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

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=12768443; DOI=10.1007/s10038-003-0025-3
He-Nian Cao, Robert Alexander Hegele;
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
J. Hum. Genet. 48:271-274(2003)