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Cellosaurus HGALBV071 (CVCL_1Z46)

[Text version]
Cell line name HGALBV071
Accession CVCL_1Z46
Resource Identification Initiative To cite this cell line use: HGALBV071 (RRID:CVCL_1Z46)
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.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; PubMed=12714972).
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 15Y0M
Category Transformed cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

Cross-references
Encyclopedic resources Wikidata; Q54885966
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13