Table 1.

List of cells and tissues used in this study

Cell line studied
Cell line description	Code	Used for		ONS protocol
Human cybrid cell line - H haplogroup	613H	ONS library preparation, variant calling, methylation analysis		Fragmentation, BamHI-based
Human cybrid cell line - J haplogroup	128J	ONS library preparation, variant calling, methylation analysis		Fragmentation, BamHI-based
Human cybrid cell line - J2 haplogroup	135J2	ONS library preparation, variant calling, methylation analysis		Fragmentation, BamHI-based
Human primary fibroblast cell line - Control	Control 1	Variant calling, methylation analysis		BamHI-based
Human primary fibroblast cell line - Control	Control 2	Variant calling, methylation analysis		BamHI-based
Human primary fibroblast cell line - MELAS mutation	m.3243A>G (1)	Variant calling, methylation analysis		BamHI-based
Human primary fibroblast cell line - MELAS mutation	m.3243A>G (2)	Variant calling, methylation analysis		BamHI-based
Human primary fibroblast cell line - MERRF cell line	m.8344A>G	Variant calling, methylation analysis		BamHI-based
Human tissues studied
Tissue type	ID code	Source	Gender/age	Used for	ONS protocol
Human Liver	TB15-0139	Addenbrooke's Tissue Bank	Male/36 years	Methylation analysis	BamHI-based
Kidney	TB12-1905	Addenbrooke's Tissue Bank	Male/60 years	Methylation analysis	BamHI-based
Human Kidney	TB15-153	Addenbrooke's Tissue Bank	Male/75 years	Methylation analysis	BamHI-based
Heart	TB12-2860	Addenbrooke's Tissue Bank	Male/28 years	Methylation analysis	BamHI-based
Skeletal Muscle	TB15-2606	Addenbrooke's Tissue Bank	Male/56 years	Methylation analysis	BamHI-based
Skeletal Muscle	TB13-1505	Addenbrooke's Tissue Bank	Male/40 years	Methylation analysis	BamHI-based
Skeletal Muscle	TB05-0578	Addenbrooke's Tissue Bank	Male/82 years	Methylation analysis	BamHI-based