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Cellosaurus HGADFN164 hTERT (CVCL_C3PD)

[Text version]
Cell line name HGADFN164 hTERT
Accession CVCL_C3PD
Resource Identification Initiative To cite this cell line use: HGADFN164 hTERT (RRID:CVCL_C3PD)
Comments Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
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 (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_1Y91 (HGADFN164)
Sex of cell Female
Age at sampling 4Y8M
Category Telomerase immortalized cell line
Publications

PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314
Lin H.-H., Mensch J., Haschke A.M., Jager K., Kottgen B., Dernedde J., Orso E., Walter M.
Establishment and characterization of hTERT immortalized Hutchinson-Gilford progeria fibroblast cell lines.
Cells 11:2784.1-2784.13(2022)

Cross-references
Encyclopedic resources Wikidata; Q116049318
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number5