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Cellosaurus GM28283 (CVCL_B5LG)

[Text version]
Cell line name GM28283
Accession CVCL_B5LG
Resource Identification Initiative To cite this cell line use: GM28283 (RRID:CVCL_B5LG)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with inclusion myopathy but possess the mutation affecting his brother, mother and uncle.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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=GM28283).
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)
Originate from same individual CVCL_LH28 ! GM26099
Sex of cell Male
Age at sampling 49Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28283
Encyclopedic resources Wikidata; Q111733240
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number8