ID   GM14428
AC   CVCL_1L01
DR   Coriell; GM14428
DR   Wikidata; Q54847206
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM14428).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Gly638Trp (c.1912G>T); ClinVar=VCV000280954; Zygosity=Heterozygous (Coriell=GM14428).
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   38Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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