Reference - Detail
| RRC ID | 61903 |
|---|---|
| Author | Katagami Y, Kondo T, Suga M, Yada Y, Imamura K, Shibukawa R, Sagara Y, Okanishi Y, Tsukita K, Hirayama K, Era T, Inoue H. |
| Title | Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a. |
| Journal | Stem Cell Res |
| 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 = ). |
| Volume | 49 |
| Pages | 102095 |
| Published | 2020-12-1 |
| DOI | 10.1016/j.scr.2020.102095 |
| PII | S1873-5061(20)30396-2 |
| PMID | 33291009 |
| MeSH | Cell Line* Glucose-6-Phosphatase / genetics Glycogen Storage Disease Type I* / genetics Hepatocytes Humans Induced Pluripotent Stem Cells* Liver Mutation |
| IF | 4.495 |
| Resource | |
| Human and Animal Cells | HPS3926 Vero(RCB0001) |