ID   GM20092
AC   CVCL_1L19
DR   CLO; CLO_0028328
DR   Coriell; GM20092
DR   Wikidata; Q54850799
CC   Population: Caucasian; Portuguese.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Cys647Trp (c.1941C>G); ClinVar=VCV000550327; Zygosity=Heterozygous (Coriell=GM20092).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Ala486Serfs*30 (c.1456_1468del); Zygosity=Heterozygous (Coriell=GM20092).
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   0-2Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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