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Cellosaurus GM14011 (CVCL_1K86)

[Text version]
Cell line name GM14011
Accession CVCL_1K86
Resource Identification Initiative To cite this cell line use: GM14011 (RRID:CVCL_1K86)
Comments 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.Asn87Glnfs*9 (c.258dupC) (c.251insC); ClinVar=VCV000282842; Zygosity=Heterozygous (Coriell=GM14011).
  • Mutation; HGNC; HGNC:4065; GAA; Simple; c.1195-8G>A; ClinVar=VCV000570655; Zygosity=Heterozygous (Coriell=GM14011).
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)
Originate from same individual CVCL_1L06 ! GM14510
Sex of cell Female
Age at sampling 30Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14011
Encyclopedic resources Wikidata; Q54846985
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14