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Stem Cell Res. 2019 Oct 18;41:101626. doi: 10.1016/j.scr.2019.101626. [Epub ahead of print]

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.

Author information

1
Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, Spain.
2
Hospital Universitario de Canarias, Universidad La Laguna, Tenerife, Spain. Centre for Biomedical Research on Rare Diseases (CIBERER).
3
University of Cologne, Institute of Human Genetics and Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany.
4
Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, Spain; Area of Cell Therapy, Clinica Universidad de Navarra, University of Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, Spain. Electronic address: fprosper@unav.es.
5
Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, Spain. Electronic address: jrrodriguez@unav.es.

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.

PMID:
31715429
DOI:
10.1016/j.scr.2019.101626
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