ID   GM12932
AC   CVCL_1K69
SY   GM 12932
DR   CLO; CLO_0022920
DR   Coriell; GM12932
DR   Wikidata; Q54846239
RX   PubMed=10189220;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp481Arg (c.1441T>C); ClinVar=VCV000189007; Zygosity=Heterozygous (PubMed=10189220).
CC   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; c.1326+1G>A (IVS8+1G>A); ClinVar=VCV000597944; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=10189220).
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   9M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 15
//
RX   PubMed=10189220; DOI=10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2;
RA   Raben N., Lee E., Lee L., Hirschhorn R., Plotz P.H.;
RT   "Novel mutations in African American patients with glycogen storage
RT   disease type II.";
RL   Hum. Mutat. 13:83-84(1999).
//