Table 1.

Fibroblast cell lines from patients with mitochondrial disease, including primary CoQ₁₀ deficiency.

Case [ref]	diagnosis	DNA mutation	variants, heteroplasmy ratea	function
1	primary CoQ10 deficiency	COQ2	c.[349G > C];[912 + 1G > del]	CoQ10 biosynthesis
2 [24]	primary CoQ10 deficiency	COQ4	c.[718C > T];[421C > T]	CoQ10 biosynthesis
3 [25]	primary CoQ10 deficiency	COQ4	c.[431C > A];[718C > T]	CoQ10 biosynthesis
4	primary CoQ10 deficiency	COQ4	c.[190C > T];[479G > A]	CoQ10 biosynthesis
5	primary CoQ10 deficiency	COQ4	c.[190C > T];[479G > A]	CoQ10 biosynthesis
6 [26]	Leigh syndrome	NDUFA1	c.[55C > T], 100% (X-linked)	Respiratory chain subunits, complex I
7 [26]	Leigh syndrome	MT-ND3	m.10158 T>C, heteroplasmic (F; 90%)	Respiratory chain subunits, complex I
8 [27]	neonatal cardiomyopathy	MT-ND5	m.13513G > A, heteroplasmic (F; 78.87%)	Respiratory chain subunits, complex I
9	infantile mitochondrial disease	MT-ND5	m.13513G > A, heteroplasmic (B; 77%)	Respiratory chain subunits, complex I
10 [28]	Leigh syndrome	MT-ND5	m.13513G > A, heteroplasmic (F; 26%)	Respiratory chain subunits, complex I
11	mitochondrial cardiomyopathy	ACAD9	c.[811 T > G];[1766-2A > G]	Respiratory chain assembly factor, complex I
12 [28]	non-lethal infantile mitochondrial disease	ACAD9	c.[1150G > A];[1817 T > A]	Respiratory chain assembly factor, complex I
13 [29]	Leigh syndrome	SURF1	c.[743C>A], homoplasmy	Respiratory chain assembly factor, complex IV
14 [25]	Leigh syndrome	SURF1	c.[367_368delAG];[572delC]	Respiratory chain assembly factor, complex IV
15 [25]	Leigh syndrome	MT-ATP6	m.8993 T > G, homoplasmy	Respiratory chain subunits, complex V
16 [30]	mtDNA depletion syndrome	DGUOK	c.[143-307_170del335];[143-307_170del335]	Deoxynucleotide triphosphate synthesis
17 [30]	mtDNA depletion syndrome	MPV17	c.[451dupC];[308_310del]	mitochondrial protein synthesis
18 [30]	mtDNA depletion syndrome	MPV17	c.[148C > T];[149G > A]	mitochondrial protein synthesis
19	Kearns-Sayre syndrome		Single mtDNA deletion (5513 bp del; m.8290–13,802)
20 [26]	MELAS	(tRNA-Leu)	m.3243 A > G, heteroplasmic (F; 21%)	Mitochondrial tRNA
21 [26]	MELAS	(tRNA-Trp)	m.5541C > T, heteroplasmic (F; 49%)	Mitochondrial tRNA
22 [31]	ECHS1 deficiency	ECHS1	c.[832G > A]	Metabolism of toxic compounds
23 [28]	cardiomyopathy	BOLA3	c.[287A > G];[287A > G]	Iron‑sulfur protein assembly
24	cardiomyopathy	BOLA3	c.[287A > G];[287A > G]	Iron‑sulfur protein assembly

^aF; fibroblasts, B; blood