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Cellosaurus HGADFN143 (CVCL_1Y89)

[Text version]
Cell line name HGADFN143
Accession CVCL_1Y89
Resource Identification Initiative To cite this cell line use: HGADFN143 (RRID:CVCL_1Y89)
Comments Part of: Progeria Research Foundation cell lines.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • 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).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1Z31 ! HGALBV011
Sex of cell Male
Age at sampling 8Y10M
Category Finite cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=30567591; DOI=10.1186/s13059-018-1599-6; PMCID=PMC6300908
Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A., Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.
Predicting age from the transcriptome of human dermal fibroblasts.
Genome Biol. 19:221.1-221.8(2018)

Cross-references
Encyclopedic resources Wikidata; Q54885946
Gene expression databases GEO; GSM3124701
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number12