ID   GM14434
AC   CVCL_1L02
DR   Coriell; GM14434
DR   Wikidata; Q54847209
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM14434).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Gly293Arg (c.877G>A); ClinVar=VCV000004036; Zygosity=Heterozygous (Coriell=GM14434).
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   27Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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