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 Res
; 41: 101626, 2019 12.
Article
in En
| MEDLINE
| ID: mdl-31715429
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hyperoxaluria, Primary
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Cell Line
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Cell Culture Techniques
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Induced Pluripotent Stem Cells
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Transaminases
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Mutation
Type of study:
Prognostic_studies
Limits:
Adult
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Humans
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Male
Language:
En
Journal:
Stem Cell Res
Year:
2019
Document type:
Article
Affiliation country:
Spain