ID   GM20005
AC   CVCL_F637
DR   CLO; CLO_0028365
DR   BioSample; SAMN00805638
DR   Coriell; GM20005
DR   Wikidata; Q54850777
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp481Glyfs*39 (c.1441delT); ClinVar=VCV000972761; Zygosity=Heterozygous (Coriell=GM20005).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp746Ter (c.2237G>A); ClinVar=VCV000280063; Zygosity=Heterozygous (Coriell=GM20005).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Discontinued: Coriell; GM20005; probable.
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)
HI   CVCL_F601 ! GM04912
SX   Male
AG   4M
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 20
//