Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)

Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA). The pathophysiology underlying these mutations and their role in causing endothelial damage remains elusive. We generated a transgenic pluripotent stem cell (iPSC) line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R). The iPSC exhibits a typical stem cell morphology, expresses pluripotency markers, and displays a normal karyotype. The iPSC line provides a valuable platform for exploring the pathogenesis of endothelial injury induced by metabolism-mediated TMA and for screening drugs to reduce endothelial damage.