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Cellosaurus AG27221 (CVCL_UX47)

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Cell line name AG27221
Synonyms AG27221*B
Accession CVCL_UX47
Resource Identification Initiative To cite this cell line use: AG27221 (RRID:CVCL_UX47)
Comments Population: Caucasian.
Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
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 (Coriell=AG27221).
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
Cross-references
Cell line collections (Providers) Coriell; AG27221
Encyclopedic resources Wikidata; Q93323493
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12