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Cellosaurus PSADFN489 (CVCL_YU40)

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Cell line name PSADFN489
Accession CVCL_YU40
Resource Identification Initiative To cite this cell line use: PSADFN489 (RRID:CVCL_YU40)
Comments Part of: Progeria Research Foundation cell lines.
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).
  • Mutation; HGNC; HGNC:2468; SMC3; Simple; p.Lys188Glu (c.562A>G); ClinVar=VCV000383548; Zygosity=Heterozygous (PRF).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y2M
Category Finite cell line
Web pages Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q98128676
Entry history
Entry creation12-Mar-2020
Last entry update10-Apr-2025
Version number9