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Cellosaurus GM24509 (CVCL_AD90)

[Text version]
Cell line name GM24509
Accession CVCL_AD90
Resource Identification Initiative To cite this cell line use: GM24509 (RRID:CVCL_AD90)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Asp394His (c.1180G>C); ClinVar=VCV000158902; Zygosity=Hemizygous (Coriell=GM24509).
Disease X-linked centronuclear myopathy (NCIt: C118781)
X-linked centronuclear myopathy (ORDO: Orphanet_596)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24509
Encyclopedic resources Wikidata; Q54853766
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13