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Cellosaurus HGPS-iPSC#2 (CVCL_L656)

[Text version]
Cell line name HGPS-iPSC#2
Accession CVCL_L656
Resource Identification Initiative To cite this cell line use: HGPS-iPSC#2 (RRID:CVCL_L656)
Comments From: The Salk Institute for Biological Studies; San Diego; USA.
Population: Caucasian.
Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
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 (from parent cell line).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F261 (GM01972)
Sex of cell Female
Age at sampling 13Y10M
Category Induced pluripotent stem cell
Publications

PubMed=21346760; DOI=10.1038/nature09879; PMCID=PMC3088088
Liu G.-H., Barkho B.Z., Ruiz S., Diep D., Qu J., Yang S.-L., Panopoulos A.D., Suzuki K., Kurian L., Walsh C., Thompson J., Boue S., Fung H.-L., Sancho-Martinez I., Zhang K., Yates J.R. 3rd, Izpisua Belmonte J.C.
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.
Nature 472:221-225(2011)

Cross-references
Encyclopedic resources Wikidata; Q54887317
Entry history
Entry creation06-May-2013
Last entry update10-Sep-2024
Version number17