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Cellosaurus PSALBV379 (CVCL_2A00)

[Text version]
Cell line name PSALBV379
Accession CVCL_2A00
Resource Identification Initiative To cite this cell line use: PSALBV379 (RRID:CVCL_2A00)
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; HGNC:6636; LMNA; Simple; c.1968+1G>A; ClinVar=VCV000066879; Zygosity=Heterozygous; Note=Splice donor mutation (PRF).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y3M
Category Transformed cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54948453
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15