ID   AG06917
AC   CVCL_L613
SY   AG 6917; AG06917A
DR   CLO; CLO_0035475
DR   Coriell; AG06917
DR   Wikidata; Q54740451
RX   CelloPub=CLPUB00597;
RX   PubMed=12714972;
CC   Sequence variation: 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 (PubMed=12714972; Coriell=AG06917).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 19
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076;
RA   Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L.,
RA   Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E.,
RA   Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.;
RT   "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford
RT   progeria syndrome.";
RL   Nature 423:293-298(2003).
//