ID   GM14550
AC   CVCL_1L09
DR   Coriell; GM14550
DR   Wikidata; Q54847300
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu176Argfs*45 (c.525delT); ClinVar=VCV000004033; Zygosity=Heterozygous (Coriell=GM14550).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Thr737Asn (c.2210C>A); ClinVar=VCV000972796; Zygosity=Heterozygous (Coriell=GM14550).
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   Female
AG   7M
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
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