• 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 parent cell line).
  

PubMed=21185252; DOI=10.1016/j.stem.2010.12.002
Jin-Qiu Zhang, Qi-Zhou Lian, Gui-Li Zhu, Fan Zhou, Lin Sui, Cindy Tan, Rafidah Abdul Mutalif, Raju Navasankari, Yue-Lin Zhang, Hung-Fat Tse, Colin L. Stewart, Alan Colman;
A human iPSC model of Hutchinson Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defects.
Cell Stem Cell 8:31-45(2011)