Detalle Publicación


Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous primary hyperoxaluria type I (PH1) patient carrying p.G170R and p.R122*mutations in the AGXT gene

Título de la revista: STEM CELL RESEARCH
ISSN: 1873-5061
Volumen: 41
Páginas: 101626
Fecha de publicación: 2019
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.