Cellosaurus cell line PSADFN423 (CVCL

Cross-references
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; 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; PMCID=PMC5384422 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)
Encyclopedic resources	Wikidata; Q98128673
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8