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Cellosaurus GM26098 (CVCL_LH27)

[Text version]
Cell line name GM26098
Accession CVCL_LH27
Resource Identification Initiative To cite this cell line use: GM26098 (RRID:CVCL_LH27)
Comments Population: Caucasian.
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=GM26098).
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_LH26 ! GM26097
Sex of cell Female
Age at sampling 64Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26098
Encyclopedic resources Wikidata; Q54854077
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number12