ID   GM13522
AC   CVCL_1K79
DR   BioSample; SAMN00802446
DR   Coriell; GM13522
DR   Wikidata; Q54846608
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg660His (c.1979G>A); ClinVar=VCV000189172; Zygosity=Heterozygous (Coriell=GM13522).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Heterozygous (Coriell=GM13522).
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   Male
AG   4M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
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