Article
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.
Stem cell research - 1 Dec 2019
Martinez-Turrillas Rebeca, Rodriguez-Diaz Saray, Rodriguez-Marquez Paula, Martin-Mallo Angel, Salido Eduardo, Beck Bodo B, Prosper Felipe, Rodriguez-Madoz Juan R
Abstract excerpt
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...
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