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Cellosaurus PSADFN423 (CVCL_YU46)

[Text version]
Cell line name PSADFN423
Accession CVCL_YU46
Resource Identification Initiative To cite this cell line use: PSADFN423 (RRID:CVCL_YU46)
Comments Part of: Progeria Research Foundation cell lines.
Doubling time: 28.8 days (Note=At 8th passage) (PubMed=27920058).
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>A; ClinVar=VCV000162414; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27920058).
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 1Y2M
Category Finite cell line
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; Q98128673
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7