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.

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...

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Main Authors:	Rebeca Martinez-Turrillas, Saray Rodriguez-Diaz, Paula Rodriguez-Marquez, Angel Martin-Mallo, Eduardo Salido, Bodo B. Beck, Felipe Prosper, Juan R. Rodriguez-Madoz
Format:	Article
Language:	English
Published:	Elsevier 2019-12-01
Series:	Stem Cell Research
Online Access:	http://www.sciencedirect.com/science/article/pii/S1873506119302569

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spelling	doaj-f6ccc601669a415a8ab9edfb7627a06f2020-11-25T00:11:16ZengElsevierStem Cell Research1873-50612019-12-0141Generation 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-Turrillas0Saray Rodriguez-Diaz1Paula Rodriguez-Marquez2Angel Martin-Mallo3Eduardo Salido4Bodo B. Beck5Felipe Prosper6Juan R. Rodriguez-Madoz7Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, SpainRegenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, SpainRegenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, SpainRegenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, SpainHospital Universitario de Canarias, Universidad La Laguna, Tenerife, Spain. Centre for Biomedical Research on Rare Diseases (CIBERER)University of Cologne, Institute of Human Genetics and Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, GermanyRegenerative 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; Corresponding Author: Cell Therapy Area, Clínica Universidad de Navarra, Av. Pio XII 36, 31008, Pamplona, Navarra, Spain. Phone: 34 948 255400, Fax: 34 948 296500Regenerative Medicine Program, CIMA Universidad de Navarra, Pamplona, Spain. Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Navarra, Spain; Corresponding Author: Regenerative Medicine Program, CIMA Universidad de Navarra, Av. Pio XII 55, 31008, Pamplona, Navarra, Spain. Phone: 34 948 194700 Fax: 34 948 194714Abstract:: 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.http://www.sciencedirect.com/science/article/pii/S1873506119302569
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Rebeca Martinez-Turrillas Saray Rodriguez-Diaz Paula Rodriguez-Marquez Angel Martin-Mallo Eduardo Salido Bodo B. Beck Felipe Prosper Juan R. Rodriguez-Madoz
spellingShingle	Rebeca Martinez-Turrillas Saray Rodriguez-Diaz Paula Rodriguez-Marquez Angel Martin-Mallo Eduardo Salido Bodo B. Beck Felipe Prosper Juan R. Rodriguez-Madoz 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
author_facet	Rebeca Martinez-Turrillas Saray Rodriguez-Diaz Paula Rodriguez-Marquez Angel Martin-Mallo Eduardo Salido Bodo B. Beck Felipe Prosper Juan R. Rodriguez-Madoz
author_sort	Rebeca Martinez-Turrillas
title	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.
title_short	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.
title_full	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.
title_fullStr	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.
title_full_unstemmed	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.
title_sort	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.
publisher	Elsevier
series	Stem Cell Research
issn	1873-5061
publishDate	2019-12-01
description	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.
url	http://www.sciencedirect.com/science/article/pii/S1873506119302569
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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.

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