ID   GM06314
AC   CVCL_H157
SY   GM 6314; GM06314A; GM17323
DR   CLO; CLO_0013649
DR   CLO; CLO_0023128
DR   Coriell; GM06314
DR   Coriell; GM17323
DR   Wikidata; Q54842246
RX   CelloPub=CLPUB00447;
RX   PubMed=1652892;
RX   PubMed=2112341;
CC   Part of: Human variation panel.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; c.-32-13T>G (IVS1-13T>G); ClinVar=VCV000004027; Zygosity=Heterozygous (Coriell=GM06314).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; c.1551+1G>C (IVS10+1G>C); ClinVar=VCV000554983; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM06314).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   40Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=1652892;
RA   Zhong N., Martiniuk F., Tzall S., Hirschhorn R.;
RT   "Identification of a missense mutation in one allele of a patient with
RT   Pompe disease, and use of endonuclease digestion of PCR-amplified RNA
RT   to demonstrate lack of mRNA expression from the second allele.";
RL   Am. J. Hum. Genet. 49:635-645(1991).
//
RX   PubMed=2112341;
RA   Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.;
RT   "Extensive genetic heterogeneity in patients with acid alpha
RT   glucosidase deficiency as detected by abnormalities of DNA and mRNA.";
RL   Am. J. Hum. Genet. 47:73-78(1990).
//