ID   AG10750
AC   CVCL_L615
DR   Coriell; AG10750
DR   GEO; GSM87553
DR   GEO; GSM88298
DR   GEO; GSM87751
DR   GEO; GSM88299
DR   GEO; GSM88282
DR   GEO; GSM88300
DR   Wikidata; Q54743475
RX   CelloPub=CLPUB00597;
RX   PubMed=10741968;
RX   PubMed=15130666;
RX   PubMed=15268757;
RX   PubMed=16126733;
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 (Coriell=AG10750).
CC   Discontinued: Coriell; AG10750; probable.
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)
OI   CVCL_0Q88 ! AG10587
SX   Male
AG   9Y4M
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 18
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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=10741968; DOI=10.1126/science.287.5462.2486;
RA   Ly D.H., Lockhart D.J., Lerner R.A., Schultz P.G.;
RT   "Mitotic misregulation and human aging.";
RL   Science 287:2486-2492(2000).
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RX   PubMed=15130666; DOI=10.1016/j.exger.2004.02.002;
RA   Bridger J.M., Kill I.R.;
RT   "Aging of Hutchinson-Gilford progeria syndrome fibroblasts is
RT   characterised by hyperproliferation and increased apoptosis.";
RL   Exp. Gerontol. 39:717-724(2004).
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RX   PubMed=15268757; DOI=10.1111/j.1474-9728.2004.00105.x;
RA   Csoka A.B., English S.B., Simkevich C.P., Ginzinger D.G., Butte A.J.,
RA   Schatten G.P., Rothman F.G., Sedivy J.M.;
RT   "Genome-scale expression profiling of Hutchinson-Gilford progeria
RT   syndrome reveals widespread transcriptional misregulation leading to
RT   mesodermal/mesenchymal defects and accelerated atherosclerosis.";
RL   Aging Cell 3:235-243(2004).
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RX   PubMed=16126733; DOI=10.1093/hmg/ddi326;
RA   Glynn M.W., Glover T.W.;
RT   "Incomplete processing of mutant lamin A in Hutchinson-Gilford
RT   progeria leads to nuclear abnormalities, which are reversed by
RT   farnesyltransferase inhibition.";
RL   Hum. Mol. Genet. 14:2959-2969(2005).
//