ID   HGADFN003
AC   CVCL_1Y86
SY   HGADFN 003; HGP 003; P01
DR   Wikidata; Q54885929
RX   PubMed=12714972;
RX   PubMed=16126733;
RX   PubMed=19958786;
RX   PubMed=23213444;
RX   PubMed=36139359;
WW   https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; 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 (PRF; PubMed=12714972).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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_1Z47 ! HGALBV073
SX   Male
AG   2Y0M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 15
//
RX   PubMed=12714972; DOI=10.1038/nature01629;
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).
//
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).
//
RX   PubMed=19958786; DOI=10.1016/j.mad.2009.11.006;
RA   Viteri G., Chung Y.W., Stadtman E.R.;
RT   "Effect of progerin on the accumulation of oxidized proteins in
RT   fibroblasts from Hutchinson Gilford progeria patients.";
RL   Mech. Ageing Dev. 131:2-8(2010).
//
RX   PubMed=23213444; DOI=10.1242/bio.20121149;
RA   Wenzel V., Roedl D., Gabriel D., Gordon L.B., Herlyn M., Schneider R.,
RA   Ring J., Djabali K.;
RT   "Naive adult stem cells from patients with Hutchinson-Gilford progeria
RT   syndrome express low levels of progerin in vivo.";
RL   Biol. Open 1:516-526(2012).
//
RX   PubMed=36139359; DOI=10.3390/cells11182784;
RA   Lin H.-H., Mensch J., Haschke M., Jager K., Kottgen B., Dernedde J.,
RA   Orso E., Walter M.;
RT   "Establishment and characterization of hTERT immortalized
RT   Hutchinson-Gilford progeria fibroblast cell lines.";
RL   Cells 11:2784.1-2784.13(2022).
//