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
Summary
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 generated induced pluripotent stem cells (hiPSCs) from two patients carrying the heterozygous compound c.1774 C>T, c.2188 G>A and c.2872 C>T AARS2 mutations, as well as a related healthy control carrying the c.2872 C>T AARS2 mutation. All hiPSC-lines expressed pluripotency markers, maintained a normal karyotype, and differentiated towards the three germ layer derivatives in vitro. These lines can be used to model COXPD8 or mitochondrial dysfunction. Copyright © 2021. Published by Elsevier B.V.
| Authors | van Helden RWJ, Birket MJ, Freund C, Arendzen CH, Mikkers HM, Orlova V, de Coo RI, Mummery CL, Bellin M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102374 |
| PubMed | 34088003 |
| DOI | 10.1016/j.scr.2021.102374 |