Stem Cell
List of diseases where iPSCs have been used for gene therapy and disease modeling.
| Disease/syndrome | Cause(s) | Features | Cells used for iPSC generation |
| Becker type muscular dystrophy (BMD) | Mutation in dystrophin gene | Loss of walking ability, but progression slower than DMD | Fibroblasts |
| Downs syndrome/trisomy 21 | Trisomy of chromosome 21 | Cardiac and cognitive defects, premature Alzheimers disease and aging, dysmorphic facial features | Fibroblasts |
| 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 |
| 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 |
| 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 |
| Duchenne type muscular dystrophy (DMD) | Biochemical and genetic defects in Dystrophin-glycoprotein complex | Loss of walking ability | Tail tip fibroblasts (mouse) |
| Alzheimer disease | Duplication of amyloid β precursor protein (APP) | Presence of neurofibrillary tangles and amyloid plaques in the brain | Fibroblasts |
| LEOPARD syndrome | Mutation in protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene | Increased failure of bone marrow, pulmonary fibrosis and cancer, oral leykoplakia, abnormal skin pigmentation and nail dystrophy | Fibroblasts |
| α1-antitrypsin deficiency | Mutation in α1-antitrypsin (A1AT) gene | misfolded α1-antitrypsin gets aggregated in the endoplasmic reticulum | Dermal fibroblasts |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Shwachman-Bodian-Diamond syndrome (SBDS) | Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene | Exocrine pancreatic insufficiency, predisposition to leukemia, hematopoietic dysfunction | Fibroblasts |
| Gaucher's type III | Deficiency of acid hydrolase, β-glucocerebrosidase, or glucosylceramidase | Myoclonal epilepsy, nerve deafness | Fibroblasts |
| Generation of human prostate and urinary tract cells | NA | NA | Human prostate and urinary tract cells |
| 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 |
| Type 1 diabetes mellitus (DM) | Progressive β-cell destruction | Long term micro and macro-vascular complications. | Fibroblasts |
| Hemophilia A | Deficiency of factor VIII | Decreased protein production, inefficient clotting of blood | Fibroblasts |
| Familial hypercholestrolaemia | Mutation in low density lipoprotein receptor (LDLR) gene | Deficiency of LDL-receptor mediated uptake of cholesterol | Dermal fibroblasts |
| Spinal muscular atrophy | Mutation in survival of motor neuron 1 (SMN1) gene | Paralysis, muscle weakness and often death | Fibroblasts |
| Hutchinson-Gilford progeria syndrome | Point mutations in lamin A | Premature atherosclerosis, vascular smooth muscles gets degraded | Fibroblasts |
| Hutchinson-Gilford progeria syndrome | Point mutations in lamin A | Premature atherosclerosis, vascular smooth muscles gets degraded | Fibroblasts |
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