ID   GM13963
AC   CVCL_1K85
DR   CLO; CLO_0033845
DR   BioSample; SAMN00802786
DR   Coriell; GM13963
DR   Wikidata; Q54846960
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (Coriell=GM13963).
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   5M
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 16
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