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Cellosaurus PSADFN318 (CVCL_1Z16)

[Text version]
Cell line name PSADFN318
Accession CVCL_1Z16
Resource Identification Initiative To cite this cell line use: PSADFN318 (RRID:CVCL_1Z16)
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:12877; ZMPSTE24; Simple; p.Pro248Leu (c.743C>T); ClinVar=VCV000004275; Zygosity=Heterozygous (PRF).
  • Mutation; HGNC; HGNC:12877; ZMPSTE24; Simple; p.Trp450Ter (c.1349G>A); ClinVar=VCV000030586; Zygosity=Heterozygous (PRF).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DP36 (PSADFSV40T318)
Sex of cell Male
Age at sampling 5M
Category Finite cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54948425
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13