ID   HGADFN178
AC   CVCL_1Y96
SY   HGADFN 178; HGP 178
DR   GEO; GSM3124699
DR   Wikidata; Q54885953
RX   PubMed=23213444;
RX   PubMed=30567591;
RX   PubMed=36139359;
WW   Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
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 (PRF).
CC   Omics: Transcriptomics; 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_1Z55 ! HGALBV110
SX   Female
AG   6Y11M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 15
//
RX   PubMed=23213444; DOI=10.1242/bio.20121149; PMCID=PMC3509444;
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=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).
//
RX   PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314;
RA   Lin H.-H., Mensch J., Haschke A.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).
//