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Cellosaurus GM23984 (CVCL_AD85)

[Text version]
Cell line name GM23984
Accession CVCL_AD85
Resource Identification Initiative To cite this cell line use: GM23984 (RRID:CVCL_AD85)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Lys363Serfs*14 (c.1088_1089delAA); ClinVar=VCV000158894; Zygosity=Hemizygous (Coriell=GM23984).
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 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23984
Encyclopedic resources Wikidata; Q54853480
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11