Patient-Specific Pluripotent Stem Cells in Neurological Diseases

Table 1

Patient-specific pluripotent stem cells in neurological diseases.

Disease	Disease gene/molecular defect	Generated neural cell type	Disease-specific genotype/phenotype in iPSCs and/or generated neural cells	Reference
SMA (type 1)	SMN	Motor neuron	Decreased neuronal survival	Ebert et al. [91]
FD	IKBKAP	NCPC	Impaired neuronal differentiation and migration	Lee et al. [92]
HD	Huntingtin	Striatal neuron	Enhanced caspase activity and neurotoxicity	Zhang et al. [93]
		NSC	Upon growth factor deprivation in iPSC-derived NSCs 72 CAG repeats in iPSCs	Park et al. [82]
FA	Frataxin	—	GAA·TTC triplet repeat instability in iPSCs	Ku et al. [94]
ALS	Multifactorial	Motor neuron	L144F polymorphism of SOD1 gene	Dimos et al. [95]
PD	Multifactorial	vmDopaminergic neuron	Not evaluated	Cooper et al. [96]
		Dopaminergic neuron	Not evaluated	Soldner et al. [62]
			Not evaluated	Park et al. [82]
AS	UBE3A	Neuron/astrocyte	UBE3A repression	Chamberlain et al. [97]
PWS	Imprinting defect	Neuron/astrocyte-like	Decreased SNORD116 expression in iPSCs	Yang et al. [98]
		—	Methylation imprint in iPSCs	Chamberlain et al. [97]
DS	Trisomy 21	—	Decreased tumor formation by iPSCs	Baek et al. [99]
			Trisomy 21 in iPSCs	Park et al. [82]
BMD	Dystrophin	—	Not shown	Park et al. [82]
DMD	Dystrophin	—	Deletion of exons 45–52 in iPSCs	Park et al. [82]
		—	Deletion of exons 4–43 in iPSCs	Kazuki et al. [100]

Amyotrophic lateral sclerosis (ALS), Angelman syndrome (AS), Becker muscular dystrophy (BMD), Down syndrome (DS), Duchenne muscular dystrophy (DMD), familial dysautonomia (FD), Friedreich's ataxia (FA), Huntington disease (HD), I-κ-B kinase complex-associated protein (IKBKAP), neural crest precursor cell (NCPC), neural stem cell (NSC), Parkinson disease (PD), Prader-Willi syndrome (PWS), small nucleolar RNA (snoRNA) HBII-85 (SNORD116), survival motor neuron (SMN), superoxide dismutase 1 (SOD1), spinal muscular atrophy (SMA), ubiquitin protein ligase E3A (UBE3A), and ventral midbrain (vm).