Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene.
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DOI: 10.1016/j.scr.2020.101934
Abstract: Leigh syndrome is a rare multi-organ system disorder that affects less than 1 in 5000 births. In cases where clinical heterogeneity makes some presentations difficult to categorize as Leigh syndrome, but are highly suggestive, those… read more here.
Keywords: variants echs1; leigh like; stem cell; like syndrome ... See more keywords