Article
Human iPSC-derived cerebral organoids model features of Leigh syndrome and reveal abnormal corticogenesis.
Development (Cambridge, England) - 15 Oct 2022
Romero-Morales Alejandra I, Robertson Gabriella L, Rastogi Anuj, Rasmussen Megan L, Temuri Hoor, McElroy Gregory Scott, Chakrabarty Ram Prosad, Hsu Lawrence, Almonacid Paula M, Millis Bryan A, Chandel Navdeep S, Cartailler Jean-Philippe, Gama Vivian
Abstract excerpt
Leigh syndrome (LS) is a rare, inherited neurometabolic disorder that presents with bilateral brain lesions caused by defects in the mitochondrial respiratory chain and associated nuclear-encoded proteins. We generated human induced pluripotent stem cells (iPSCs) from three LS patient-derived fibroblast lines. Using whole-exome and mitochondrial sequencing, we identified unreported mutations in pyruvate...
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