Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a

Yukimi Katagami; Takayuki Kondo; Mika Suga; Yuichiro Yada; Keiko Imamura; Ran Shibukawa; Yukako Sagara; Yasue Okanishi; Kayoko Tsukita; Kenji Hirayama; Takumi Era; Haruhisa Inoue

Stem Cell Research (Dec 2020)

Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a

Yukimi Katagami,
Takayuki Kondo,
Mika Suga,
Yuichiro Yada,
Keiko Imamura,
Ran Shibukawa,
Yukako Sagara,
Yasue Okanishi,
Kayoko Tsukita,
Kenji Hirayama,
Takumi Era,
Haruhisa Inoue

Affiliations

Yukimi Katagami: iPSC-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, Japan
Takayuki Kondo: iPSC-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
Mika Suga: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Yuichiro Yada: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Keiko Imamura: iPSC-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
Ran Shibukawa: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Yukako Sagara: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Yasue Okanishi: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan
Kayoko Tsukita: iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan; Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
Kenji Hirayama: Department of Immunogenetics, Institute of Tropical Medicine (NEKKEN), Nagasaki University, Nagasaki 852-8523, Japan
Takumi Era: Department of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto 860-0811, Japan
Haruhisa Inoue: iPSC-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.

Journal volume & issue: Vol. 49
p. 102095

Abstract

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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 = ).

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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