• 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=23213444; DOI=10.1242/bio.20121149; PMCID=PMC3509444
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)

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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)

PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314
Lin H.-H., Mensch J., Haschke A.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)