Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage
Yukimi Katagami1, Takayuki Kondo2, Mika Suga3
1iPSC-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.
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 = ).
More Related Videos
13:18Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells
Published on: June 28, 2013
12:03Generation of Human Induced Pluripotent Stem Cells from Peripheral Blood Using the STEMCCA Lentiviral Vector
Published on: October 31, 2012
Related Concept Videos
iPS Cell Differentiation
EPS and iPS Cells in Disease Research
Induced Pluripotent Stem Cells
Somatic...
Induced Pluripotent Stem Cells
