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