ID   GM14057
AC   CVCL_1K93
DR   Coriell; GM14057
DR   Wikidata; Q54847016
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.-32-2A>G; ClinVar=VCV000972817; Zygosity=Heterozygous (Coriell=GM14057).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Tyr609Ter (c.1827delC) (p.Arg608_Tyr609insTer); ClinVar=VCV000188936; Zygosity=Heterozygous (Coriell=GM14057).
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   2Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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