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.
摘要：
GCDH编码催化赖氨酸降解途径的第六步的酶。GCDH中的常染色体隐性变异与戊二酸尿症I型（GA1）有关，其中已经描述了致病变异的广泛基因型谱。在这项研究中,产生并完全表征了来自四个具有不同基因型的GA1患者的hiPSC系。两名患者在GCDH中携带复合杂合变体，而其他两名患者携带纯合子变异。这些hiPSC细胞系可以显著有助于更好地理解GA1的分子机制，并为开发新的治疗策略提供极好的模型。
