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Cellosaurus HGALBV055 (CVCL_1Z41)

[Text version]
Cell line name HGALBV055
Accession CVCL_1Z41
Resource Identification Initiative To cite this cell line use: HGALBV055 (RRID:CVCL_1Z41)
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; 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).
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 7Y3M
Category Transformed cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54885964
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14