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Cellosaurus AG28340 (CVCL_B5PN)

[Text version]
Cell line name AG28340
Synonyms AG28340*B
Accession CVCL_B5PN
Resource Identification Initiative To cite this cell line use: AG28340 (RRID:CVCL_B5PN)
Comments Population: African American.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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=AG28340).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_H766 (AG11498)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; AG28340
Encyclopedic resources Wikidata; Q111732897
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6