ID   GM14407
AC   CVCL_1K98
DR   Coriell; GM14407
DR   Wikidata; Q54847197
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Leu291Phe (c.871C>T); ClinVar=VCV000956209; Zygosity=Heterozygous (Coriell=GM14407).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp481Arg (c.1441T>C); ClinVar=VCV000189007; Zygosity=Heterozygous (Coriell=GM14407).
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   1Y8M
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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