ID   AG06297
AC   CVCL_H765
SY   AG06297A; AG06297B; AG06297C
DR   CLO; CLO_0035510
DR   Coriell; AG06297
DR   Wikidata; Q54740296
RX   CelloPub=CLPUB00597;
RX   PubMed=10741968;
RX   PubMed=12714972;
RX   PubMed=15130666;
RX   PubMed=16126733;
CC   Population: Caucasian.
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=AG06297).
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   8Y2M
CA   Finite cell line
DT   Created: 11-02-13; 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).
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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=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=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=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).
//