Cellosaurus cell line PSADFN489 (CVCL

Cross-references
Cell line name	PSADFN489
Accession	CVCL_YU40
Resource Identification Initiative	To cite this cell line use: PSADFN489 (RRID:CVCL_YU40)
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; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (PRF). Mutation; HGNC; 2468; SMC3; Simple; p.Lys188Glu (c.562A>G); ClinVar=VCV000383548; Zygosity=Heterozygous (PRF).
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	3Y2M
Category	Finite cell line
Web pages	https://www.progeriaresearch.org/available-cell-lines/
Encyclopedic resources	Wikidata; Q98128676
Entry history
Entry creation	12-Mar-2020
Last entry update	29-Jun-2023
Version number	7