ID   HGADFN143
AC   CVCL_1Y89
DR   GEO; GSM3124701
DR   Wikidata; Q54885946
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)
OI   CVCL_1Z31 ! HGALBV011
SX   Male
AG   8Y10M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 14
//
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).
//