@article{oai:nagasaki-u.repo.nii.ac.jp:00026258, author = {Katagami, Yukimi and Kondo, Takayuki and Suga, Mika and Yada, Yuichiro and Imamura, Keiko and Shibukawa, Ran and Sagara, Yukako and Okanishi, Yasue and Tsukita, Kayoko and Hirayama, Kenji and Era, Takumi and Inoue, Haruhisa}, journal = {Stem Cell Research}, month = {Nov}, note = {Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disorder caused by mutations of the glucose-6-phosphatase (G6PC) gene. Mutations of the G6PC gene lead to excessive accumulation of glycogen in the liver, kidney, and intestinal mucosa due to the deficiency of microsomal glucose-6-phosphatase.Human induced pluripotent stem cells (iPSCs) enable the production of patient-derived hepatocytes in culture and are therefore a promising tool for modeling GSD1a. Here, we report the establishment of human iPSCs from a GSD1a patient carrying a G6PC mutation (c.648G > T; p.Leu216 = )., Stem Cell Research, 49, art.no.102095; 2020}, title = {Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a}, volume = {49}, year = {2020} }