ID   AG10587
AC   CVCL_0Q88
DR   CLO; CLO_0021540
DR   Coriell; AG10587
DR   Wikidata; Q54743369
RX   CelloPub=CLPUB00597;
RX   PubMed=12714972;
RX   PubMed=12768443;
CC   Population: Caucasian; Dutch.
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; PubMed=12768443).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L615 ! AG10750
SX   Male
AG   9Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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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).
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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).
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RX   PubMed=12768443; DOI=10.1007/s10038-003-0025-3;
RA   Cao H.-N., Hegele R.A.;
RT   "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not
RT   in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).";
RL   J. Hum. Genet. 48:271-274(2003).
//