ID   GM13352
AC   CVCL_1K74
DR   CLO; CLO_0012903
DR   BioSample; SAMN00802326
DR   Coriell; GM13352
DR   Wikidata; Q54846478
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu521Lys (c.1561G>A); ClinVar=VCV000004022; Zygosity=Homozygous (Coriell=GM13352).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   7M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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