{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:41:12Z","timestamp":1791398472785,"version":"4.3.3"},"reference-count":47,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,10,28]],"date-time":"2013-10-28T00:00:00Z","timestamp":1382918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes to Cells"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Glycogen storage disease type<jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>b (<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b) is caused by a deficiency in the glucose\u20106\u2010phosphate transporter (<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>6<jats:styled-content style=\"fixed-case\">PT<\/jats:styled-content>), which leads to neutrophil dysfunction. However, the underlying causes of these dysfunctions and their relationship with glucose homeostasis are unclear. Induced pluripotent stem cells (i<jats:styled-content style=\"fixed-case\">PSC<\/jats:styled-content>s) hold a great promise for advances in developmental biology, cell\u2010based therapy and modeling of human disease. Here, we examined the use of i<jats:styled-content style=\"fixed-case\">PSC<\/jats:styled-content>s as a model for<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b. In this study, one 2\u2010year\u2010old patient was genetically screened and diagnosed with<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b. We established i<jats:styled-content style=\"fixed-case\">PSC<\/jats:styled-content>s and differentiated these cells into hepatocytes and neutrophils, which comprise the main pathological components of<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b. Cells that differentiated into hepatocytes exhibited characteristic albumin secretion and indocyanine green uptake. Moreover, i<jats:styled-content style=\"fixed-case\">PSC<\/jats:styled-content>\u2010derived cells generated from patients with<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b metabolic abnormalities recapitulated key pathological features of the diseases affecting the patients from whom they were derived, such as glycogen, lactate, pyruvate and lipid accumulation. Cells that were differentiated into neutrophils also showed the<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b pathology. In addition to the expression of neutrophil markers, we showed increased superoxide anion production, increased annexin<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>binding and activation of caspase\u20103 and caspase\u20109, consistent with the<jats:styled-content style=\"fixed-case\">GSDI<\/jats:styled-content>b patient's neutrophils. These results indicate valuable tools for the analysis of this pathology and the development of future treatments.<\/jats:p>","DOI":"10.1111\/gtc.12101","type":"journal-article","created":{"date-parts":[[2013,10,28]],"date-time":"2013-10-28T09:01:13Z","timestamp":1382950873000},"page":"1053-1069","source":"Crossref","is-referenced-by-count":21,"title":["Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type<scp>I<\/scp>b patient"],"prefix":"10.1111","volume":"18","author":[{"given":"Daisuke","family":"Satoh","sequence":"first","affiliation":[{"name":"Department of Clinical Pharmacy Graduate School of Pharmaceutical Sciences Nagoya City University 3\u20101 Tanabe\u2010dori Mizuho\u2010ku Nagoya 467\u20108603 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy Graduate School of Pharmaceutical Sciences Nagoya City University 3\u20101 Tanabe\u2010dori Mizuho\u2010ku Nagoya 467\u20108603 Japan"},{"name":"College of Pharmacy Kinjo Gakuin University Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatrics Graduate School of Medical Sciences Nagoya City University Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatrics Graduate School of Medical Sciences Nagoya City University Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Ohte","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacy Graduate School of Pharmaceutical Sciences Nagoya City University 3\u20101 Tanabe\u2010dori Mizuho\u2010ku Nagoya 467\u20108603 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