Argininosuccinic aciduria (ASA) is a rare inherited metabolic disorder caused by a deficiency of argininosuccinate lyase (ASL). Patients with ASA present with hyperammonemia due to an impaired urea cycle pathway in the liver, as well as a systemic disease characterized by epileptic encephalopathy, chronic liver disease, and arterial hypertension.
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with ASA carrying a homozygous pathogenic mutation c.437G A in the hASL gene. Characterization of the cell line demonstrated pluripotency, differentiation potential, and a normal karyotype. This cell line, named UCLi024-A, can be used for in vitro disease modeling of ASA and for the development of novel therapeutic strategies.
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