• Mutation; 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 (PRF).
  

PubMed=19958786; DOI=10.1016/j.mad.2009.11.006
Viteri G., Chung Y.W., Stadtman E.R.
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Mech. Ageing Dev. 131:2-8(2010)

PubMed=23027899; DOI=10.1083/jcb.201207072
Gordon L.B., Cao K., Collins F.S.
Progeria: translational insights from cell biology.
J. Cell Biol. 199:9-13(2012)

PubMed=23325432; DOI=10.1101/gr.147942.112
Varley K.E., Gertz J., Bowling K.M., Parker S.L., Reddy T.E., Pauli-Behn F., Cross M.K., Williams B.A., Stamatoyannopoulos J.A., Crawford G.E., Absher D.M., Wold B.J., Myers R.M.
Dynamic DNA methylation across diverse human cell lines and tissues.
Genome Res. 23:555-567(2013)

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

PubMed=30567591; DOI=10.1186/s13059-018-1599-6
Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A., Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.
Predicting age from the transcriptome of human dermal fibroblasts.
Genome Biol. 19:221.1-221.8(2018)