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

doi:10.1016/j.scr.2020.102095

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

Stem Cell Res. 2020 Dec:49:102095. doi: 10.1016/j.scr.2020.102095. Epub 2020 Nov 23.

Authors

Affiliations

¹ 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.
² 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.
³ iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan.
⁴ 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.
⁵ Department of Immunogenetics, Institute of Tropical Medicine (NEKKEN), Nagasaki University, Nagasaki 852-8523, Japan.
⁶ Department of Cell Modulation, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto 860-0811, Japan.
⁷ 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. Electronic address: [email protected].

PMID: 33291009
DOI: 10.1016/j.scr.2020.102095

Abstract

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 = ).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line*
Glucose-6-Phosphatase / genetics
Glycogen Storage Disease Type I* / genetics
Hepatocytes
Humans
Induced Pluripotent Stem Cells*
Liver
Mutation

Substances

Glucose-6-Phosphatase