ID   AG11498
AC   CVCL_H766
DR   CLO; CLO_0021565
DR   Coriell; AG11498
DR   GEO; GSM88283
DR   GEO; GSM88284
DR   GEO; GSM88285
DR   GEO; GSM88301
DR   GEO; GSM88302
DR   GEO; GSM88303
DR   Wikidata; Q54743960
RX   CelloPub=CLPUB00597;
RX   PubMed=12714972;
RX   PubMed=15268757;
RX   PubMed=16126733;
RX   PubMed=28855503;
CC   Population: African American.
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=AG11498).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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   14Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 10-04-25; 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).
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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=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).
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RX   PubMed=28855503; DOI=10.1038/s41467-017-00322-z; PMCID=PMC5577202;
RA   Buchwalter A., Hetzer M.W.;
RT   "Nucleolar expansion and elevated protein translation in premature
RT   aging.";
RL   Nat. Commun. 8:328.1-328.13(2017).
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