Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a
oleh: Yukimi Katagami, Takayuki Kondo, Mika Suga, Yuichiro Yada, Keiko Imamura, Ran Shibukawa, Yukako Sagara, Yasue Okanishi, Kayoko Tsukita, Kenji Hirayama, Takumi Era, Haruhisa Inoue
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-12-01 |
Deskripsi
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 = ).