Table 1.
Features of subjects in control, mitochondrial, and nuclear groups
| Patient Age |
Haplogroup | Phenotype (#MIM) | Gene | Nt change | AA change | Reprogram system | Starting material | iPSC clones | NPC clones | CGH/Karyotype iPSC clones | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Control group | |||||||||||
| C1 34 |
J1c2 | none | none | none | none | Sendai virus | fibroblasts | 19M | 0 | 0.4-Mb duplication in 18p11.22 | |
| 38M | 0 | normal | |||||||||
| 44M | 1 | normal | |||||||||
| C2 54 |
H4a1a | none | none | none | none | Sendai virus | fibroblasts | #37 | 1 | normal | |
| #68 | 1 | normal | |||||||||
| C3 32 |
H1 | none | none | none | none | Sendai virus | fibroblasts | #7 | 0 | 1.5-Mb deletion in 16q23.3 | |
| C4 54 |
H4a1a | none | none | none | none | Sendai virus | fibroblasts | #123 | 0 | normal | |
| #130 | 0 | normal | |||||||||
| C5 39 |
D1g | none | none | none | none | Sendai virus | PBMCs | #105 | 0 | normal | |
| Mitochondrial group | |||||||||||
| M1 26 |
J1c4 | LHON (#535000) | MT-ND4 | m.11778G>A homoplasmic |
p.R340H | Sendai virus | fibroblasts | #20 | 1 | normal | |
| #32 | 0 | normal | |||||||||
| M2 19 |
H1at1 | LHON (#535000) | MT-ND1 | m.3460G>A homoplasmic |
p.A52T | Sendai virus | fibroblasts | 15M | 1 | 60.6-Mb duplication in 1p35.3p22.2 | |
| 33M | 0 | normal | Peron et al., (2020) | ||||||||
| M3 40 |
H7 | MELAS (#540000) | MT-TL1 | m.3243A>G heteroplasmic |
NA | retroviral transduction | fibroblasts | #A | 0 | normal | Hämäläinen et al., (2013) |
| #B | 0 | normal | |||||||||
| #L | 0 | normal | |||||||||
| #N | 0 | normal | |||||||||
| M4 80 |
H1b | NARP (#551500) | MT-ATP6 | m.9185T>C homoplasmic |
p.L220P | episomal plasmid | fibroblasts | A1 | 1 | normal |
Auré et al. (2013) Lorenz et al., (2017) |
| M5 47 |
H1b | NARP (#551500) | MT-ATP6 | m.9185T>C homoplasmic |
p.L220P | retrovirus | fibroblasts | A2 | 1 | normal | |
| M6 20 |
H1b | NARP (#551500) | MT-ATP6 | m.9185T>C homoplasmic |
p.L220P | retrovirus | fibroblasts | A3 | 1 | normal | |
| Nuclear group | |||||||||||
| N1 12 |
U5a1a1 | PKAN (#234200) | PANK2 | c.569insA homozygous |
p.Y190X | Sendai virus | fibroblasts | 1535 | 1 | normal | Orellana et al., (2016) |
| N2 20 |
U4b1a | DOA (#165500) | OPA1 | c.1334 G>A heterozygous |
p.R445H | Sendai virus | fibroblasts | 13M | 1 | normal | |
| 20M | 0 | normal | |||||||||
| N3 27 |
H13a1a1 | DOA (#165500) | OPA1 | c.1334 G>A heterozygous |
p.R445H | Sendai virus | fibroblasts | #202 | 0 | normal | |
| #205 | 0 | normal | |||||||||
| N4 69 |
HV0b | DOA (#165500) | OPA1 | c.1462A>G heterozygous |
p.G488R | Sendai virus | fibroblasts | #12 | 1 | normal | Iannielli et al., (2018) |
| #18 | 1 | normal | |||||||||
| N5 70 |
H1aq | DOA (#165500) | OPA1 | c.1484C>T heterozygous |
p.A495V | Sendai virus | fibroblasts | #72 | 1 | normal | |
| #75 | 1 | normal | |||||||||
| N6 57 |
H1ab1 | CPEO (#203700) | POLG | c.1943C>G homozygous | p.P648R | Sendai virus | fibroblasts | #2 | 0 | normal | |
| #3 | 0 | normal | |||||||||
| #4 | 1 | normal | |||||||||
| #6 | 0 | normal | |||||||||
| #8 | 1 | normal | |||||||||
| N7 75 |
J1c15 | CPEO (#609286) | TWNK | c.907C>T heterozygous | p.R303W | Sendai virus | fibroblasts | #34 | 0 | normal | |
MIM, Online Mendelian Inheritance in Man; Nt, nucleotide; AA, amino acid; CPEO, chronic progressive external ophtalmoplegia