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


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 are referred to as Leigh-like syndrome. It may present with delay after birth and can be slightly milder than classic Leigh. We have created an iPSC line for the novel variants in the ECHS1 gene that was reported in our patient. This cellular model is being used to determine prospective treatment opportunities for the patient. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sequiera GL, Rockman-Greenberg C, Dhingra S
Journal Stem cell research
Publication Date 2020 Oct;48:101934
PubMed 32777769
DOI 10.1016/j.scr.2020.101934

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