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Cellosaurus GM13963 (CVCL_1K85)

[Text version]
Cell line name GM13963
Accession CVCL_1K85
Resource Identification Initiative To cite this cell line use: GM13963 (RRID:CVCL_1K85)
Comments Population: Pakistani.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (Coriell=GM13963).
Disease Glycogen storage disease type II (NCIt: C84734)
Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM13963
Cell line databases/resources CLO; CLO_0033845
Biological sample resources BioSample; SAMN00802786
Encyclopedic resources Wikidata; Q54846960
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16