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Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.

Stem cell research - 1 Apr 2024

Duff Claire, Islam Madeha, Gagliano Onelia, Pramod Hema, Rashidi Hassan, Kurian Manju A, Gissen Paul, Baruteau Julien

Abstract excerpt

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...

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PMID: 38422816
DOI: 10.1016/j.scr.2024.103365

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