• 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 (from autologous cell line AG03506).
  

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 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
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=6223188; DOI=10.1016/0047-6374(83)90071-4
Chapman M.L., Zaun M.R., Gracy R.W.
Changes in NAD levels in human lymphocytes and fibroblasts during aging and in premature aging syndromes.
Mech. Ageing Dev. 21:157-167(1983)

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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

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.
Hum. Mol. Genet. 14:2959-2969(2005)