Scientific publications
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
Rebeca Martinez-Turrillas 1 , Saray Rodriguez-Diaz 1 , Paula Rodriguez-Marquez 1 , Angel Martin-Mallo 1 , Eduardo Salido 2 , Bodo B Beck 3 , Felipe Prosper 4 , Juan R Rodriguez-Madoz 5
Abstract
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.
CITATION Stem Cell Res . 2019 Dec;41:101626. doi: 10.1016/j.scr.2019.101626. Epub 2019 Oct 18
Our authors
