Homo sapiens
Sample_replicate
4
isolate
Individual with mutations in NDUFS1 (c.683T>C, p.V228A c.755A>G, p.D252G)
age
28 days
biomaterial_provider
Institute of Human Genetics, Helmholtz Zentrum München
sex
male
tissue
Skin
cell_type
Skin Fibroblasts
culture_medium
DMEM + 10% FBS
disease
Mitochondrial Encephalomyopathy
phenotype
Mitochondrial Complex I Deficiency
BioSampleModel
Human