Proteasome impairment in neural cells derived from HMSN-P patient iPSCs

Table 1 Characteristics of iPSC clones

	control1	control2	control3	HMSN-P1	HMSN-P2	HMSN-P3
Clone name at establishment	TIG107	HC2EL5	hc3NORA	ALS43EL1	ALS44E1	ALS44E9
Control or HMSN-P	control	control	control	HMSN-P	HMSN-P
Gender	female	male	female	male	female
Age at biopsy	81	64	65	48	52
Disease duration	N.A.	N.A.	N.A.	5 years	12 years
Proximal muscle weakness	N.A.	N.A.	N.A.	+	+
Bulbar symptoms	N.A.	N.A.	N.A.	-	-
Respiratory failure	N.A.	N.A.	N.A.	-	-
Sensory disturbance	N.A.	N.A.	N.A.	+	+
Genotype	N.A.	N.A.	N.A.	TFG (P285L)	TFG (P285L)
Origin	HDFs	PBMCs	PBMCs	HDFs	HDFs
Reprogramming	retrovirus	episomal	episomal	episomal	episomal

HMSN-P hereditary motor and sensory neuropathy with proximal dominant involvement, HDFs human dermal fibroblasts, PBMCs peripheral blood mononuclear cells, iPSC induced pluripotent stem cell, N.A. not applicable

ISSN: 1756-6606