ID   GM04912
AC   CVCL_F601
SY   GM 4912; GM 04912
DR   CLO; CLO_0025608
DR   Coriell; GM04912
DR   Wikidata; Q54838757
RX   CelloPub=CLPUB00447;
RX   PubMed=1652892;
RX   PubMed=2112341;
RX   PubMed=10189220;
RX   PubMed=25488666;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp481Glyfs*39 (c.1441delT); ClinVar=VCV000972761; Zygosity=Heterozygous (PubMed=10189220).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Trp746Ter (c.2237G>A); ClinVar=VCV000280063; 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   4M
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 16
//
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).
//
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).
//
RX   PubMed=25488666; DOI=10.1074/jbc.M114.628628;
RA   Raval K.K., Tao R., White B.E., De Lange W.J., Koonce C.H., Yu J.-Y.,
RA   Kishnani P.S., Thomson J.A., Mosher D.F., Ralphe J.C., Kamp T.J.;
RT   "Pompe disease results in a Golgi-based glycosylation deficit in human
RT   induced pluripotent stem cell-derived cardiomyocytes.";
RL   J. Biol. Chem. 290:3121-3136(2015).
//