Full metadata record
DC Field | Value | Language |
---|---|---|
dc.creator | Martínez-Turrillas, R. (Rebeca) | - |
dc.creator | Rodriguez, S. (Saray) | - |
dc.creator | Rodriguez-Marquez, P. (Paula) | - |
dc.creator | Martin-Mallo, A. (Angel) | - |
dc.creator | Salido, E. (Eduardo) | - |
dc.creator | Beck, B.B. (Bodo B.) | - |
dc.creator | Prosper-Cardoso, F. (Felipe) | - |
dc.creator | Rodriguez-Madoz, J.R. (Juan Roberto) | - |
dc.date.accessioned | 2021-11-16T08:43:58Z | - |
dc.date.available | 2021-11-16T08:43:58Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Martínez-Turrillas, R. (Rebeca); Rodriguez, S. (Saray); Rodriguez-Marquez, P. (Paula); et al. "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. 41, 2019, 101626 | es_ES |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://hdl.handle.net/10171/62579 | - |
dc.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. | es_ES |
dc.description.sponsorship | This work was supported by grants from Instituto de Salud Carlos III (ISCIII) PI16/00150, ERA-NET E-Rare 3 research program JTC ERAdicatPH (ISCIII) AC15/00036, TERCEL (ISCIII) RD16/0011/0005, Gobierno de Navarra 91/2016 and Oxalosis & Hyperoxaluria Foundation. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier BV | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | Primary Hyperoxaluria Type I (PH1) | es_ES |
dc.subject | Induced pluripotent stem cell (iPSC) | es_ES |
dc.subject | Life-threatening disease | es_ES |
dc.subject | Mistargeting mutation | es_ES |
dc.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. | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.description.note | This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/). | es_ES |
dc.identifier.doi | 10.1016/j.scr.2019.101626 | - |
dadun.citation.publicationName | Stem Cell Research | es_ES |
dadun.citation.startingPage | 101626 | es_ES |
dadun.citation.volume | 41 | es_ES |
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