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Cellosaurus HGADFN367 (CVCL_1Y99)

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Cell line name HGADFN367
Accession CVCL_1Y99
Resource Identification Initiative To cite this cell line use: HGADFN367 (RRID:CVCL_1Y99)
Comments Part of: Progeria Research Foundation cell lines.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • 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).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DP43 (HGADFSV40T367)
Sex of cell Female
Age at sampling 3Y0M
Category Finite cell line
Web pages Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=30567591; DOI=10.1186/s13059-018-1599-6; PMCID=PMC6300908
Jason G. Fleischer, Roberta Schulte, Hsiao H. Tsai, Swati Tyagi, Arkaitz Ibarra, Maxim N. Shokhirev, Ling Huang, Martin W. Hetzer, Saket Navlakha;
Predicting age from the transcriptome of human dermal fibroblasts.
Genome Biol. 19:221.1-221.8(2018)

Cross-references
Encyclopedic resources Wikidata; Q54885956
Gene expression databases GEO; GSM3124702
Entry history
Entry creation22-Sep-2015
Last entry update10-Apr-2025
Version number14