Table 2|.
Fibroblast cell lines obtained from the Coriell Institute Cell Repository
| Cell line ID |
Description | Mutation(s) | Sex | Age at sampling, yr |
Race | Passage frozen |
Publication | dbSNP ID |
|---|---|---|---|---|---|---|---|---|
| GM06225 | Kearns-Sayre Syndrome | - | Male | 10 | Caucasian | 5 | 15280047 | 14761 |
| GM01503 | Leigh Syndrome | MTATP6 | Female | 3 | Caucasian | 5 | 2376596; | 21779 |
| 7200213 | ||||||||
| GM03672 | Leigh Syndrome | MTATP6 | Female | 1 | Caucasian | 2 | 2376596 | 21068 |
| GM13411 | Leigh Syndrome | MTATP6; 8993T>G mtDNA; L156R | Male | 0.8 | Asian | 3 | 23665194; | 11776 |
| 8042671 | ||||||||
| GM24529 | Ataxia and cerebellar hypoplasia mitochondrial complex I deficiency; NUBPL | NUBPL; T311C; NADH:ubiquinone oxidoreductase Fe/S protein; assembly of mitochondrial complex I | Female | 14 | Caucasian | 2 |
dbSNP, Single Nucleotide Polymorphism Database; NADH, reduced nicotinamide adenine dinucleotide; NUBPL, nucleotide-binding protein-like.