ID   GM20090
AC   CVCL_1L17
DR   CLO; CLO_0028332
DR   Coriell; GM20090
DR   Wikidata; Q54850797
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asp645Asn (c.1933G>A); ClinVar=VCV000188728; Zygosity=Heterozygous (Coriell=GM20090).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu748Glyfs*48 (c.2242dupG) (2243insG); ClinVar=VCV000370651; Zygosity=Heterozygous (Coriell=GM20090).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   6M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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