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Cellosaurus GM10680 (CVCL_AD71)

[Text version]
Cell line name GM10680
Accession CVCL_AD71
Resource Identification Initiative To cite this cell line use: GM10680 (RRID:CVCL_AD71)
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.Asp431Asn (c.1291G>A); ClinVar=VCV000281932; Zygosity=Hemizygous (Coriell=GM10680).
  • Mutation; HGNC; HGNC:7448; MTM1; Simple; p.Asp433Asn (c.1297G>A); ClinVar=VCV000281933; Zygosity=Hemizygous (Coriell=GM10680).
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 1M2W
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM10680
Cell line databases/resources CLO; CLO_0024615
Biological sample resources BioSample; SAMN00800150
Encyclopedic resources Wikidata; Q54844588
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13