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Cellosaurus GM23505 (CVCL_1L24)

[Text version]
Cell line name GM23505
Accession CVCL_1L24
Resource Identification Initiative To cite this cell line use: GM23505 (RRID:CVCL_1L24)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9726; PYGM; Simple; p.Arg50Ter (c.148C>T); ClinVar=VCV000002298; Zygosity=Homozygous (Coriell=GM23505).
Disease Glycogen storage disease type V (NCIt: C84738)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (ORDO: Orphanet_368)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23505
Encyclopedic resources Wikidata; Q54853127
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15