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Cellosaurus PSADFN392 (CVCL_1Z22)

[Text version]
Cell line name PSADFN392
Accession CVCL_1Z22
Resource Identification Initiative To cite this cell line use: PSADFN392 (RRID:CVCL_1Z22)
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; c.1968+2T>C; ClinVar=VCV000162415; Zygosity=Unspecified; Note=Splice donor mutation (PRF).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y4M
Category Finite cell line
Web pages Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295; PMCID=PMC5384422
Daniel Z. Bar, Martin F. Arlt, Joan F. Brazier, Wendy E. Norris, Susan E. Campbell, Peter S. Chines, Delphine Larrieu, Stephen Philip Jackson, Francis Sellers Collins, Thomas W. Glover, Leslie Beth Gordon;
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J. Med. Genet. 54:212-216(2017)

Cross-references
Encyclopedic resources Wikidata; Q54948437
Entry history
Entry creation22-Sep-2015
Last entry update10-Apr-2025
Version number15