Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control

Combined Oxidative Phosphorylation Deficiency 8 (COXPD8) is an autosomal recessive disorder causing lethal childhood-onset hypertrophic cardiomyopathy. Homozygous or compound heterozygous mutations in the nuclear-encoded mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene underly the pathology. We g...

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Bibliographic Details
Main Authors: Ruben W.J. van Helden, Matthew J. Birket, Christian Freund, Christaan H. Arendzen, Harald M. Mikkers, Valeria Orlova, René I. de Coo, Christine L. Mummery, Milena Bellin
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002208