Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a
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-ph...
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2020-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303962 |
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doaj-f294814b8d4c4cbea3b9f67f3d8fa5872020-12-19T05:05:08ZengElsevierStem Cell Research1873-50612020-12-0149102095Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1aYukimi Katagami0Takayuki Kondo1Mika Suga2Yuichiro Yada3Keiko Imamura4Ran Shibukawa5Yukako Sagara6Yasue Okanishi7Kayoko Tsukita8Kenji Hirayama9Takumi Era10Haruhisa Inoue11iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Department of Immunogenetics, Institute of Tropical Medicine (NEKKEN), Nagasaki University, Nagasaki 852-8523, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto 606-8507, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto 606-8507, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, JapanDepartment of Immunogenetics, Institute of Tropical Medicine (NEKKEN), Nagasaki University, Nagasaki 852-8523, JapanDepartment of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto 860-0811, JapaniPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Medical-risk Avoidance based on iPS Cells Team, RIKEN Center for Advanced Intelligence Project (AIP), Kyoto 606-8507, Japan; Corresponding author at: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.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 = ).http://www.sciencedirect.com/science/article/pii/S1873506120303962 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Yukimi Katagami Takayuki Kondo Mika Suga Yuichiro Yada Keiko Imamura Ran Shibukawa Yukako Sagara Yasue Okanishi Kayoko Tsukita Kenji Hirayama Takumi Era Haruhisa Inoue |
| spellingShingle |
Yukimi Katagami Takayuki Kondo Mika Suga Yuichiro Yada Keiko Imamura Ran Shibukawa Yukako Sagara Yasue Okanishi Kayoko Tsukita Kenji Hirayama Takumi Era Haruhisa Inoue Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a Stem Cell Research |
| author_facet |
Yukimi Katagami Takayuki Kondo Mika Suga Yuichiro Yada Keiko Imamura Ran Shibukawa Yukako Sagara Yasue Okanishi Kayoko Tsukita Kenji Hirayama Takumi Era Haruhisa Inoue |
| author_sort |
Yukimi Katagami |
| title |
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a |
| title_short |
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a |
| title_full |
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a |
| title_fullStr |
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a |
| title_full_unstemmed |
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a |
| title_sort |
generation of a human induced pluripotent stem cell line, brci009-a, derived from a patient with glycogen storage disease type 1a |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2020-12-01 |
| description |
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 = ). |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506120303962 |
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