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Cellosaurus HGADFN167 iPS1Q (CVCL_2A12)

[Text version]
Cell line name HGADFN167 iPS1Q
Accession CVCL_2A12
Resource Identification Initiative To cite this cell line use: HGADFN167 iPS1Q (RRID:CVCL_2A12)
Comments Part of: Progeria Research Foundation cell lines.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
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)
Hierarchy Parent: CVCL_1Y92 (HGADFN167)
Sex of cell Male
Age at sampling 8Y5M
Category Induced pluripotent stem cell
Web pages https://www.progeriaresearch.org/available-cell-lines/
Cross-references
Encyclopedic resources Wikidata; Q54885951
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13