• Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (Coriell=GM00248).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=6401921; PMCID=PMC1685485
Nicholas G. Beratis, Gundula U. LaBadie, Kurt Hirschhorn;
Genetic heterogeneity in acid alpha-glucosidase deficiency.
Am. J. Hum. Genet. 35:21-33(1983)

PubMed=6418414; DOI=10.1016/0009-8981(83)90179-1
Nicholas G. Beratis, Lorraine Wilbur, Susan L. Sklower Brooks;
Acid alpha-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid alpha-glucosidase.
Clin. Chim. Acta 134:11-16(1983)

PubMed=2112341; PMCID=PMC1683757
Frank Martiniuk, Mark Mehler, Stephanie Tzall, Gary Meredith, Rochelle Hirschhorn;
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Am. J. Hum. Genet. 47:73-78(1990)

PubMed=1652892; PMCID=PMC1683123
Nan Zhong, Frank Martiniuk, Stephanie Tzall, Rochelle Hirschhorn;
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(1991)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217
Yu-Shan Cheng, Shu Yang, Jun-Jie Hong, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Wen-Wei Huang, Wei Zheng;
Modeling CNS involvement in Pompe disease using neural stem cells generated from patient-derived induced pluripotent stem cells.
Cells 10:8.1-8.14(2021)