{Reference Type}: Journal Article
{Title}: Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH.
{Author}: Schuurmans IME;van Karnebeek CDM;Hoogendoorn ADM;Ribes A;Nadif Kasri N;Garanto A;
{Journal}: Stem Cell Res
{Volume}: 79
{Issue}: 0
{Year}: 2024 Sep 19
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2024.103481
{Abstract}: 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 heterozygous variants in GCDH, while the other two patients carry a variant in homozygosis. These hiPSC lines can significantly contribute to better understand the molecular mechanism underlying GA1 and provide excellent models for the development of new therapeutic strategies.