Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients

Table 1 A list of iPSCs lines generated from patients with MERRF syndrome used in this study

iPSC lines	Original cells	mtDNA genotype	FH	m.8344A > G mutation load (%)
				SF		iPSCs		iNSCs
				RFLP	NGS	RFLP	NGS	RFLP	NGS
M1^Low iPSCs	M1 SF	m.8344A > G	Yes	97.0 ± 2.6	95.4	N.D.	N.D.	N.D.	N.D.
M1^High iPSCs	M1 SF	m.8344A > G	Yes	97.0 ± 2.6	95.4	47.8 ± 0.9	41.7	38.7 ± 2.5	35.9
M2^High iPSCs	M2 SF	m.8344A > G	Yes	47.0 ± 0.6	N.A.	57.0 ± 0.4	51.6	59.9 ± 2.4	55.4
M3^Low iPSCs	M3 SF	m.8344A > G	Yes	98.3 ± 1.2	85.5	5.4 ± 1.0	6.2	3.5 ± 0.6	7.3
M3^Med1 iPSCs	M3 SF	m.8344A > G	Yes	98.3 ± 1.2	85.5	27.9 ± 0.9	25.4	27.6 ± 1.9	22.1
M3^Med2 iPSCs	M3 SF	m.8344A > G	Yes	98.3 ± 1.2	85.5	26.5 ± 2.1	N.A.	26.0 ± 3.0	N.A.
N iPSCs	N PBMC	Wild type	No	N.A.	N.A.	N.D.	N.D.	N.D.	N.D.

FH family history, N normal, N.A. not available, N.D. not detectable, SF skin fibroblast

ISSN: 1423-0127