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

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) enzy...

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Published inStem cell research Vol. 41; p. 101626
Main Authors Martinez-Turrillas, Rebeca, Rodriguez-Diaz, Saray, Rodriguez-Marquez, Paula, Martin-Mallo, Angel, Salido, Eduardo, Beck, Bodo B., Prosper, Felipe, Rodriguez-Madoz, Juan R.
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2019
Elsevier
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Summary: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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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101626