ID   AG10677
AC   CVCL_0Q95
DR   CLO; CLO_0021497
DR   Coriell; AG10677
DR   Wikidata; Q54743464
RX   CelloPub=CLPUB00597;
RX   PubMed=12714972;
RX   PubMed=15130666;
CC   Population: Caucasian; English/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu145Lys (c.433G>A); ClinVar=VCV000014502; Zygosity=Heterozygous (PubMed=12714972).
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)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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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=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).
//