Maternally Inherited Leigh Syndrome

Title Maternally Inherited Leigh Syndrome
Acronym MILS
Start date 2019-01-01
End date
Sponsor Deutsche Forschungsgemeinschaft
Institution Charité - Universitätsmedizin Berlin

Associated cell lines

Project Description

We generated two pairs of mother-child iPSCs lines for Maternally Inherited Leigh Syndrome (MILS) carrying the m.8993T > G and m.9176T > G mutations in the MT-ATP6 gene. We delivered reprogramming factors OCT4, SOX2, KLF4, and c-MYC via Sendai virus. All iPSCs lines had a normal karyotype, expressed pluripotency markers, and differentiated into the three germ layers. Both patient-iPSCs retained the same degrees of heteroplasmy as their source fibroblasts ( > 97.0%). In maternal iPSCs, the heteroplasmy remained 0.0% in the case of the m.8993T > G mutation and dropped from 55.0% to 1.0% in the case of m.9176T > G mutation.