ID   HGADFN169
AC   CVCL_1Y95
DR   GEO; GSM3124698
DR   Wikidata; Q54885952
RX   PubMed=23213444;
RX   PubMed=30567591;
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)
SX   Male
AG   8Y6M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 14
//
RX   PubMed=23213444; DOI=10.1242/bio.20121149; PMCID=PMC3509444;
RA   Wenzel, Vera
RA   Roedl, Daniela
RA   Gabriel, Diana
RA   Gordon, Leslie Beth
RA   Herlyn, Meenhard
RA   Schneider, Reinhard
RA   Ring, Johannes
RA   Djabali, Karima
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, Jason G.
RA   Schulte, Roberta
RA   Tsai, Hsiao H.
RA   Tyagi, Swati
RA   Ibarra, Arkaitz
RA   Shokhirev, Maxim N.
RA   Huang, Ling
RA   Hetzer, Martin W.
RA   Navlakha, Saket
RT   "Predicting age from the transcriptome of human dermal fibroblasts.";
RL   Genome Biol. 19:221.1-221.8(2018).
//