ID   GM20161
AC   CVCL_1L22
DR   CLO; CLO_0027712
DR   Coriell; GM20161
DR   Wikidata; Q54850815
CC   Population: Caucasian; Portuguese.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Cys647Trp (c.1941C>G); ClinVar=VCV000550327; Zygosity=Homozygous (Coriell=GM20161).
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   2M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
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