ID   GM20088
AC   CVCL_1L15
DR   CLO; CLO_0028309
DR   BioSample; SAMN00805672
DR   Coriell; GM20088
DR   Wikidata; Q54850795
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.2646+2T>A (IVS18+2T>A); ClinVar=VCV000188924; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20088).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Unexplicit; IVS7-IVS15del; Zygosity=Heterozygous (Coriell=GM20088).
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   Female
AG   5M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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