期刊
STEM CELL RESEARCH
卷 41, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2019.101626
关键词
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资金
- Instituto de Salud Carlos III (ISCIII) [PI16/00150]
- ERA-NET E-Rare 3 research program JTC ERAdicatPH (ISCIII) [AC15/00036]
- TERCEL (ISCIII) [RD16/0011/0005]
- Gobierno de Navarra [91/2016]
- Oxalosis & Hyperoxaluria Foundation
Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive metabolic disorder characterized by defects in enzymes involved in glyoxylate metabolism. PH1 is a life-threatening disease caused by the absence, deficiency or mistargeting of the hepatic alanine-glyoxylate aminotransferase (AGT) enzyme. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a PH1 patient being compound heterozygous for the most common mutation c.508G>A (G170R), a mistargeting mutation, and c.364C>T (R122*), a previously reported nonsense mutation in AGTX. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.
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