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Cellosaurus HGADFN122 (CVCL_1Y87)

[Text version]
Cell line name HGADFN122
Accession CVCL_1Y87
Resource Identification Initiative To cite this cell line use: HGADFN122 (RRID:CVCL_1Y87)
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_1Z52 ! HGALBV097
Sex of cell Female
Age at sampling 5Y0M
Category Finite cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=30567591; DOI=10.1186/s13059-018-1599-6
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; Q54885943
Gene expression databases GEO; GSM3124700
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number12