• 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=12714972).
  

PubMed=12714972; DOI=10.1038/nature01629
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

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)

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=23213444; DOI=10.1242/bio.20121149
Wenzel V., Roedl D., Gabriel D., Gordon L.B., Herlyn M., Schneider R., Ring J., Djabali K.
Naive adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Biol. Open 1:516-526(2012)

PubMed=36139359; DOI=10.3390/cells11182784
Lin H.-H., Mensch J., Haschke M., Jager K., Kottgen B., Dernedde J., Orso E., Walter M.
Establishment and characterization of hTERT immortalized Hutchinson-Gilford progeria fibroblast cell lines.
Cells 11:2784.1-2784.13(2022)