• 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 (from parent cell line).
  

PubMed=21346760; DOI=10.1038/nature09879; PMCID=PMC3088088
Liu G.-H., Barkho B.Z., Ruiz S., Diep D., Qu J., Yang S.-L., Panopoulos A.D., Suzuki K., Kurian L., Walsh C., Thompson J., Boue S., Fung H.-L., Sancho-Martinez I., Zhang K., Yates J.R. 3rd, Izpisua Belmonte J.C.
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.
Nature 472:221-225(2011)