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Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH.

Stem cell research - 1 Sept 2024

Schuurmans Imke M E, van Karnebeek Clara D M, Hoogendoorn Anita D M, Ribes Antonia, Nadif Kasri Nael, Garanto Alejandro

Abstract excerpt

GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a wide genotypic spectrum of pathogenic variants have been described. In this study, hiPSC lines derived from four GA1 patients with different genotypes were generated and fully characterized. Two patients carry compound...

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Identifiers

PMID: 38924972
DOI: 10.1016/j.scr.2024.103481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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