Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with epileptic encephalopathy, chronic liver disease, and arterial hypertension. A human induced pluripotent stem cell (iPSC) line from the fibroblasts of a patient with ASA with homozygous pathogenic c.437G > A mutation of was generated. Characterization of the cell line demonstrated pluripotency, differentiation potential and normal karyotype. This cell line, called UCLi024-A, can be utilized for disease modelling of ASA, and design of novel therapeutics.

中文翻译：

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从携带纯合 c.437G > A (p.Arg146Gln) 突变的精氨酸琥珀酸裂解酶缺陷患者生成诱导多能干细胞 (UCLi024-A)

精氨基琥珀酸尿症（ASA）是一种罕见的遗传性代谢性疾病，由精氨基琥珀酸裂解酶（ASL）缺陷引起。 ASA 患者因肝脏尿素循环途径受损而出现高氨血症，以及癫痫性脑病、慢性肝病和动脉高血压等全身性疾病。产生了来自 ASA 患者成纤维细胞的人诱导多能干细胞 (iPSC) 系，该患者具有纯合致病性 c.437G > A 突变。细胞系的表征显示出多能性、分化潜力和正常核型。该细胞系称为 UCLi024-A，可用于 ASA 疾病建模和新型疗法的设计。