Cellosaurus logo
expasy logo

Cellosaurus PSALBV296 (CVCL_1Z99)

[Text version]
Cell line name PSALBV296
Accession CVCL_1Z99
Resource Identification Initiative To cite this cell line use: PSALBV296 (RRID:CVCL_1Z99)
Comments Part of: Progeria Research Foundation cell lines.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Gly608Ser (c.1822G>A); ClinVar=VCV000014501; 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).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1Z10 ! PSADFN328
Sex of cell Female
Age at sampling 10Y8M
Category Transformed cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54948449
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13