ID   GM00248
AC   CVCL_1K46
SY   GM-248; GM 248
DR   CLO; CLO_0025495
DR   Coriell; GM00248
DR   Wikidata; Q54836114
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1652892;
RX   PubMed=2112341;
RX   PubMed=6401921;
RX   PubMed=6418414;
RX   PubMed=33375166;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (Coriell=GM00248).
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   5M
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 30-01-24; Version: 15
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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=6401921;
RA   Beratis N.G., LaBadie G.U., Hirschhorn K.;
RT   "Genetic heterogeneity in acid alpha-glucosidase deficiency.";
RL   Am. J. Hum. Genet. 35:21-33(1983).
//
RX   PubMed=6418414; DOI=10.1016/0009-8981(83)90179-1;
RA   Beratis N.G., Wilbur L., Sklower S.L.;
RT   "Acid alpha-glucosidase deficiency in cultured fibroblasts with
RT   phenotype 2 of acid alpha-glucosidase.";
RL   Clin. Chim. Acta 134:11-16(1983).
//
RX   PubMed=33375166; DOI=10.3390/cells10010008;
RA   Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z.,
RA   Huang W.-W., Zheng W.;
RT   "Modeling CNS involvement in Pompe disease using neural stem cells
RT   generated from patient-derived induced pluripotent stem cells.";
RL   Cells 10:8.1-8.14(2021).
//