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Cellosaurus GM26579 (CVCL_LH33)

[Text version]
Cell line name GM26579
Accession CVCL_LH33
Resource Identification Initiative To cite this cell line use: GM26579 (RRID:CVCL_LH33)
Comments Population: Caucasian.
Derived from site: In situ; Flank, skin; UBERON=UBERON_8480023.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:30171; HSPB8; Simple; p.Pro173Serfs*43 (c.515dupC); ClinVar=VCV000986227; Zygosity=Heterozygous (Coriell=GM26579).
Disease Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (NCIt: C122663)
Inclusion myopathy (ORDO: Orphanet_206662)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 66Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26579
Encyclopedic resources Wikidata; Q54854100
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number13