Cell Engineering Division -CELL BANK-

In relation to iPS cells derived from Amyotrophic Lateral Sclerosis (ALS), we analyzed causal genes, SOD1 gene and TARDBP/ALS10/TDP-43 gene.

Analyzed cell lines: 61 cell lines (61 patients)

Methods: Target sequence with NGS (Ion S5) using Ion AmpliSeq™ On-Demand panel which covers all exons of SOD1 gene and TARDBP/ALS10/TDP-43 gene.

Results:
・Mutations in SOD1 gene were detected in 8 cell lines (8 patients).
・Mutations in TARDBP/ALS10/TDP-43 gene were detected in 2 cell lines (2 patients).
・Neither mutation of SOD1 nor mutation of TARDBP/ALS10/TDP-43 was detected in 51 cell lines (51 patients).

Mutations in SOD1

Cell No.	Age	Sex	Exon	Locus	Coding	Amino Acid Change	homo or hetero	other clones derived from the same patient
HPS0250	40s	F	2	chr21:33036170	c.140A>G	p.His47Arg	hetero
HPS0476	50s	M	2	chr21:33036170	c.140A>G	p.His47Arg	hetero	HPS0477, HPS0478
HPS0485	40s	F	2	chr21:33036170	c.140A>G	p.His47Arg	hetero	HPS0486, HPS0487
HPS0564	30s	M	2	chr21:33036170	c.140A>G	p.His47Arg	hetero	HPS0565, HPS0566, HPS0567, HPS0568, HPS0569
HPS0059	40s	M	4	chr21:33039650	c.319C>G	p.Leu107Val	hetero
HPS0558	40s	M	4	chr21:33039650	c.319C>G	p.Leu107Val	hetero	HPS0559, HPS0560, HPS0561, HPS0562, HPS0563
HPS0251	40s	M	5	chr21:33040855	c.430_434dup	p.Leu145PhefsTer7	hetero	HPS1719
HPS0252	40s	M	5	chr21:33040855	c.430_434dup	p.Leu145PhefsTer7	hetero	HPS1720

Mutations in TARDBP / ALS10 / TDP-43

Cell No.	Age	Sex	Exon	Locus	Coding	Amino Acid Change	homo or hetero	other clones derived from the same patient
HPS0290	50s	M	6	chr1:11082494	c.1028A>G	p.Gln343Arg	hetero	HPS0291, HPS0327
HPS0292	60s	F	6	chr1:11082475	c.1009A>G	p.Met337Val	hetero	HPS0293, HPS0294, HPS1717

The list of cell lines in which neither mutation of SOD1 nor mutation of TARDBP/ALS10/TDP-43 was detected.
HPS0129, HPS0134, HPS0140, HPS0146, HPS0247, HPS0248, HPS0253, HPS0419, HPS0473, HPS0576, HPS0612, HPS0618, HPS0624, HPS0630, HPS0636, HPS0642, HPS0648, HPS0724, HPS0730, HPS0736, HPS0742, HPS0748, HPS0754, HPS0760, HPS0766, HPS0782, HPS0788. HPS0794, HPS0824, HPS0860, HPS0878, HPS0890, HPS0896, HPS0902, HPS0908, HPS0914, HPS0920, HPS0926, HPS1055, HPS1056, HPS1721, HPS1818, HPS1819, HPS1821, HPS1822, HPS1824, HPS1826, HPS1828, HPS1830, HPS1831, HPS1835