ID   HGADFN167
AC   CVCL_1Y92
SY   HGPS; PRF167
DR   EFO; EFO_0005909
DR   ENCODE; ENCBS381ENC
DR   GEO; GSM1023616
DR   GEO; GSM1023617
DR   GEO; GSM1023618
DR   GEO; GSM1023619
DR   GEO; GSM1023624
DR   GEO; GSM1023625
DR   GEO; GSM1023626
DR   GEO; GSM1023627
DR   GEO; GSM3124694
DR   Wikidata; Q54885949
RX   PubMed=19958786;
RX   PubMed=23027899;
RX   PubMed=23325432;
RX   PubMed=28855503;
RX   PubMed=30567591;
WW   https://www.progeriaresearch.org/available-cell-lines/
WW   http://genome.ucsc.edu/ENCODE/protocols/cell/human/progeria_Crawford_protocol.pdf
CC   Part of: ENCODE project common cell types; tier 3.
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).
CC   Omics: DNA methylation analysis.
CC   Omics: H3K27me3 ChIP-seq epigenome analysis.
CC   Omics: Transcriptome analysis by RNAseq.
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_1Z28 ! HGALBV009
SX   Male
AG   8Y5M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 14
//
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=23027899; DOI=10.1083/jcb.201207072;
RA   Gordon L.B., Cao K., Collins F.S.;
RT   "Progeria: translational insights from cell biology.";
RL   J. Cell Biol. 199:9-13(2012).
//
RX   PubMed=23325432; DOI=10.1101/gr.147942.112;
RA   Varley K.E., Gertz J., Bowling K.M., Parker S.L., Reddy T.E.,
RA   Pauli-Behn F., Cross M.K., Williams B.A., Stamatoyannopoulos J.A.,
RA   Crawford G.E., Absher D.M., Wold B.J., Myers R.M.;
RT   "Dynamic DNA methylation across diverse human cell lines and
RT   tissues.";
RL   Genome Res. 23:555-567(2013).
//
RX   PubMed=28855503; DOI=10.1038/s41467-017-00322-z;
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).
//
RX   PubMed=30567591; DOI=10.1186/s13059-018-1599-6;
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).
//