Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a
Summary
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 = ). Copyright © 2020. Published by Elsevier B.V.
| Authors | Katagami Y, Kondo T, Suga M, Yada Y, Imamura K, Shibukawa R, Sagara Y, Okanishi Y, Tsukita K, Hirayama K, Era T, Inoue H |
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| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102095 |
| PubMed | 33291009 |
| DOI | 10.1016/j.scr.2020.102095 |