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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2021-05-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121002208 |