ID   HGADFN367
AC   CVCL_1Y99
DR   GEO; GSM3124702
DR   Wikidata; Q54885956
RX   PubMed=30567591;
WW   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: 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)
SX   Female
AG   3Y0M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 13
//
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).
//