ID   GM13544
AC   CVCL_1K81
DR   BioSample; SAMN00802462
DR   Coriell; GM13544
DR   Wikidata; Q54846625
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp516Ter (c.1548G>A); ClinVar=VCV000189025; Zygosity=Heterozygous (Coriell=GM13544).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asn520Ser (c.1559A>G); ClinVar=VCV000849167; Zygosity=Heterozygous (Coriell=GM13544).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84734; Glycogen storage disease type II
DI   ORDO; Orphanet_365; Glycogen storage disease due to acid maltase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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