ID   AG11513
AC   CVCL_0Q97
DR   CLO; CLO_0022604
DR   Coriell; AG11513
DR   GEO; GSM88286
DR   GEO; GSM88287
DR   GEO; GSM88288
DR   GEO; GSM88304
DR   GEO; GSM88305
DR   GEO; GSM88306
DR   GEO; GSM3124693
DR   Wikidata; Q54743964
RX   CelloPub=CLPUB00597;
RX   PubMed=12714972;
RX   PubMed=15268757;
RX   PubMed=28855503;
RX   PubMed=30567591;
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=AG11513).
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
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   Female
AG   8Y2M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 10-04-25; 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=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=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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RX   PubMed=30567591; DOI=10.1186/s13059-018-1599-6; PMCID=PMC6300908;
RA   Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A.,
RA   Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.;
RT   "Predicting age from the transcriptome of human dermal fibroblasts.";
RL   Genome Biol. 19:221.1-221.8(2018).
//