ID   GM14045
AC   CVCL_1K90
DR   Coriell; GM14045
DR   Wikidata; Q54847000
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Met318Thr (c.953T>C); ClinVar=VCV000004021; Zygosity=Heterozygous (Coriell=GM14045).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp746Ser (c.2237G>C); ClinVar=VCV000188484; Zygosity=Heterozygous (Coriell=GM14045).
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   8Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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