Table 4.

List of diseases where iPSCs have been used for gene therapy and disease modeling.

Disease/syndrome	Cause(s)	Features	Cells used for iPSC generation	System used	References
Parkinson's Disease (PD)	Familial forms caused by α-synuclein, ubiquitin carboxy terminal hydroxylase L1, parkin, DJ-1, putative serine threonine kinase 1 and leucine rich repeat kinase 2	Loss in nigrostriated dopaminergic neurons in substantia nigra; presence of Lewy bodies	Dermal fibroblasts of patient with idiopathic PD	Lentiviral	Soldner et al., 2009
Huntington disease (HD)	CAG repeats (36 or more) in the first exon of htt gene gets expanded abnormally	Degeneration in striatum and cerebral cortex	Fibroblasts	Lentiviral	Park et al., 2008b; Kaye and Finkbeiner, 2013
ALS or Lou Gehrig's disease	Autosomal dominant mutation in superoxide demutase (SOD1)	Death of motor neurons of the motor cortex, brain stem and spinal cord	Fibroblasts	Lentiviral	Rosen et al., 1993; Chestkov et al., 2014
Friedreich's ataxia (FRDA)	GAA trinucleotide repeat in the first exon of the frataxin gene gets expanded	Accumulation of mitochondrial iron, specific enzymes in mitochondria become defective, sensitivity to oxidative stress increases, cell death mediated by free radicals	Fibroblasts	Lentiviral	Campuzano et al., 1996; Ku et al., 2010
Lesch-Nhyan syndrome (carrier state)	Deficiency of hypoxanthine guanine phospho ribosyl transferase (HPRT)	Over-production of uric acid, low or medium level of mental retardation, megaloblastic anemia is frequent	Dermal fibroblasts	Lentiviral	Park et al., 2008b
Shwachman-Bodian-Diamond syndrome (SBDS)	Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene	Exocrine pancreatic insufficiency, predisposition to leukemia, hematopoietic dysfunction	Fibroblasts	Lentiviral	Tulpule et al., 2013
Gaucher's type III	Deficiency of acid hydrolase, β-glucocerebrosidase, or glucosylceramidase	Myoclonal epilepsy, nerve deafness	Fibroblasts	Lentiviral	Park et al., 2008b
Becker type muscular dystrophy (BMD)	Mutation in dystrophin gene	Loss of walking ability, but progression slower than DMD	Fibroblasts	Lentiviral	Park et al., 2008b
Downs syndrome/trisomy 21	Trisomy of chromosome 21	Cardiac and cognitive defects, premature Alzheimers disease and aging, dysmorphic facial features	Fibroblasts	Lentiviral	Park et al., 2008b; Briggs et al., 2013
Familial dysautonomia (FD) or Riley-Day syndrome	Autosomal recessive disorder caused by a single mutation in exon 20 in I-K-B kinase complex associated protein (IKBKAP) gene	Dysfunction of small fiber sensory neurons	Fibroblasts	Lentiviral	Lee and Studer, 2011
Childhood cerebral adreno leuko dystrophy (CCALD)	Mutation in ABCD1 gene	Adrenal cortex, nervous system and testes get affected, leading to rapid cerebral demyelination and adrenocortical atrophy.	Skin fibroblasts	Retroviral	Wang et al., 2012
Rett's syndrome	Classic form caused by loss-of-function mutation in Methyl-CpG-binding protein 2 (MECP2) gene on the X - chromosome, variants caused by mutations in FOXG1 or CDKL1 on chromosome 14 and X-chromosome, respectively	Neurocognitive regression and autistic behavior	Fibroblasts	Retroviral	Amenduni et al., 2011; Farra et al., 2012
Duchenne type muscular dystrophy (DMD)	Biochemical and genetic defects in Dystrophin-glycoprotein complex	Loss of walking ability	Tail tip fibroblasts (mouse)	Retroviral	Gangopadhyay et al., 1992; Filareto et al., 2013
Generation of human prostate and urinary tract cells	NA	NA	Human prostate and urinary tract cells	Lentiviral	Moad et al., 2013
Adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID)	Defects in Adenosine deaminase (AD) gene	Impaired development and functioning of T, B, and NK cells; complete absence of humoral and cellular immunity; recurrence of infections.	Bone Marrow derived mesenchymal cells	Lentiviral	Park et al., 2008b; Sauer et al., 2012
Type 1 diabetes mellitus (DM)	Progressive β-cell destruction	Long term micro and macro-vascular complications.	Fibroblasts	Lentiviral	Park et al., 2008b; Soejitno and Prayudi, 2011
Hemophilia A	Deficiency of factor VIII	Decreased protein production, inefficient clotting of blood	Fibroblasts	Retroviral	Xu et al., 2009
Glycogen storage disease 1a	Mutation in Glucose-6-Phosphate gene	Increased accumulation of lipids and glycogen	Dermal fibroblasts	Retroviral	Lei et al., 1995; Rashid et al., 2010
Familial hypercholestrolaemia	Mutation in low density lipoprotein receptor (LDLR) gene	Deficiency of LDL-receptor mediated uptake of cholesterol	Dermal fibroblasts	Retroviral	Rashid et al., 2010
Spinal muscular atrophy	Mutation in survival of motor neuron 1 (SMN1) gene	Paralysis, muscle weakness and often death	Fibroblasts	Lentiviral	Ebert et al., 2009
Hutchinson-Gilford progeria syndrome	Point mutations in lamin A	Premature atherosclerosis, vascular smooth muscles gets degraded	Fibroblasts	Retroviral	Liu et al., 2011a
Alzheimer disease	Duplication of amyloid β precursor protein (APP)	Presence of neurofibrillary tangles and amyloid plaques in the brain	Fibroblasts	Retroviral	Israel et al., 2012
LEOPARD syndrome	Mutation in protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene	Cardiac abnormalities, ocular hypertelorism, and growth retardation.	Fibroblasts	Retroviral	Legius et al., 2002; Carvajal-Vergara et al., 2010.
Timothy's syndrome	CACNA1C	Webbed fingers and toes, autism, immune deficiency	Fibroblasts	Retroviral	Yazawa et al., 2011
Dyskeratosis congentia	Mutation in dyskerin (DKC1) gene	Increased failure of bone marrow, pulmonary fibrosis and cancer, oral leykoplakia, abnormal skin pigmentation and nail dystrophy	Fibroblasts	Retroviral	Batista et al., 2011
α1-antitrypsin deficiency	Mutation in α1-antitrypsin (A1AT) gene	misfolded α1-antitrypsin gets aggregated in the endoplasmic reticulum	Dermal fibroblasts	Retroviral	Rashid et al., 2010