• 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 (PRF).
  

PubMed=19958786; DOI=10.1016/j.mad.2009.11.006; PMCID=PMC2837844
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; PMCID=PMC3461511
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; PMCID=PMC3589544
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; PMCID=PMC5577202
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; PMCID=PMC6300908
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)