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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; 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 https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295
Bar D.Z., Arlt M.F., Brazier J.F., Norris W.E., Campbell S.E., Chines P.S., Larrieu D., Jackson S.P., Collins F.S., Glover T.W., Gordon L.B.
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 update29-Jun-2023
Version number13