ID   GM03329
AC   CVCL_1K55
SY   GM 3329; GM 03329
DR   CLO; CLO_0016588
DR   BioSample; SAMN00808356
DR   Coriell; GM03329
DR   Wikidata; Q54838008
RX   CelloPub=CLPUB00447;
RX   PubMed=1652892;
RX   PubMed=2112341;
RX   PubMed=10189220;
CC   Population: African American.
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   Sequence variation: Mutation; HGNC; HGNC:4065; GAA; Simple; p.Met519Val (c.1555A>G); ClinVar=VCV001067893; Zygosity=Heterozygous (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   Male
AG   1Y11M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 10-04-25; Version: 17
//
RX   PubMed=10189220; DOI=10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2;
RA   Raben, Nina
RA   Lee, Eunice
RA   Lee, Laura
RA   Hirschhorn, Rochelle
RA   Plotz, Paul H.
RT   "Novel mutations in African American patients with glycogen storage
RT   disease type II.";
RL   Hum. Mutat. 13:83-84(1999).
//
RX   PubMed=1652892; PMCID=PMC1683123;
RA   Zhong, Nan
RA   Martiniuk, Frank
RA   Tzall, Stephanie
RA   Hirschhorn, Rochelle
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; PMCID=PMC1683757;
RA   Martiniuk, Frank
RA   Mehler, Mark
RA   Tzall, Stephanie
RA   Meredith, Gary
RA   Hirschhorn, Rochelle
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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//