The study of disease has been hampered by a lack of in vitro models that correlate with clinical data. Researchers have traditionally relied on animal or tumor-derived cells, lines immortalized through genetic modification, or difficult to obtain primary tissue. The advent of iPS cells has drastically changed the field by providing a simple platform to study a wide range of human diseases and to screen novel drugs to treat them.
Disease Modeling with Induced Pluripotent Stem Cells (iPSCs)
Disease Modeling
Our differentiation technology allows for fast, footprint-free differentiation of both healthy control and diseased patient iPSCs, allowing for scalable, robust, and reproducible models in a wide array of diseases.
The study of disease has been hampered by a lack of in vitro models that correlate with clinical data. Researchers have traditionally relied on animal or tumor-derived cells, lines immortalized through genetic modification, or difficult to obtain primary tissue.The advent of iPS cells has drastically changed the field by providing a simple platform to study a wide range of human diseases and to screen novel drugs to treat them.
Our differentiation technology allows for fast, footprint-free differentiation of both healthy control and diseased patient iPSCs, allowing for scalable, robust, and reproducible models in a wide array of diseases.
How will you use iPSCs for your own disease modeling? Browse Elixirgen's iPSC Differentiation Products and Services.
How will you use iPSCs for your own disease modeling? Browse Elixirgen's iPSC Differentiation Products and Services.
Elixirgen's Products at Work
Click the tabs below to see how Elixirgen's products have provided effective models for several different disease types!
Figure 1: Cholinergic neurons differentiated, using Elixirgen's CH-SeV differentiation kit, from ALS patient-derived iPSCs (with TDP-43 mutation) show aggregation of TDP-43 in cytoplasm
Figure 2: Mixed neurons differentiated from both a control patient and an Alzheimer’s Disease (AD) affected patient using Elixirgen's mixed neuron Sendai virus kit (A) qRT-PCR data 15 days post differentiation (B) ELISA data shows amounts of Aβ and Tau protein after 6 weeks of culture
Figure 3: Skeletal muscle cells differentiated (using Elixirgen's Differentiation Service) from Myotonic Dystrophy Type I (DM-03) and gene-corrected (J-6) patient-derived iPSCs provided by a customer. Cells derived from the DMD1 patient exhibit disease-associated phenotypes (on DM-03 nuclei, A, C). Loss of disease-associated RNA foci was observed after correction of the mutation (on J-6 nuclei: B, D).
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List of diseases and mutations.
Transform how you study disease with Quick-Tissue™ technology
With Quick-Tissue™ technology, you can study disease state from multiple angles in vitro. Thanks to advance in iPSC reprogramming technology, there are thousands of iPSC lines available for your disease study. Look through the iPSC line database below to find out your diseases in interest exist. The database also lists identified mutant genes. Feel free to reach us to how we can help getting differentiated cells derived from iPSC lines in your interest.
| Disease | Mutant genes (# of iPSC lines) | Number of total patient iPSC lines |
|---|---|---|
| ABCA1 heterozygous | ABC1 (2) | 2 |
| Abetalipoproteinemia | MTP (2) | 2 |
| Acromesomelic dysplasia | NPR2 (1) | 1 |
| Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) | 1 | |
| Adrenoleukodystrophy (ALD) | 1 | |
| Adult-onset Still’s disease (AOSD) | 1 | |
| Age-related macular degeneration (AMD) | 121 | |
| Aicardi syndrome | 1 | |
| Alexander disease | GFAP (3) | 6 |
| Allergic granulomatous angiitis | 1 | |
| Alzheimer's disease (AD) | APOE (10), APOE4 (3), APP (4), C9ORF (1), CD33 (2), MAPT (2), PSEN1 (14), PSEN2 (1), TBK1 (1), TREM2 (3) | 180 |
| Alzheimer's disease (AD) (Gene-edited) | APP (6), PSEN1 (8) | 14 |
| Alzheimer's disease (AD) (familial) | APP (3), APPV7171 (4), PSEN1 (1), PSEN2 (1) | 11 |
| Amyotrophic lateral sclerosis (ALS) | ASYMPTOMATIC C9ORF72 CARRIER (1), C9ORF72 (46), FIG4 (1), FUS (3), SETX (1), SETX, SOD1 (1), SOD1 (36), SOD1 > D90A (1), TARDBP (5), VCP (1) | 532 |
| Anemia (phenotype) | 1 | |
| Angelman syndrome | UBE3A (2) | 10 |
| Aplastic anemia | 3 | |
| Arrhythmogenic right ventricular cardiomyopathy | 2 | |
| Arteriolosclerosis | 2 | |
| Associated pulmonary arterial hypertension | 18 | |
| Ataxia-telangiectasia | 3 | |
| Atrial fibrillation | 14 | |
| Atrial tachycardia | 1 | |
| Autism spectrum disorder (ASD) | 110 | |
| Autoimmune hemolytic anemia (AHA) / Idiopathic warm (AHA) | 1 | |
| Bardet-biedl syndrome | 22 | |
| Batten disease (cln3) | CLN3 (23) | 23 |
| Batten disease (cln6) | 8 | |
| Behçet’s disease | 2 | |
| Beta thalassemia | HBB (2) | 2 |
| Bethlem myopathy | 2 | |
| Bilateral frontoparietal polymicrogyria | GPR56 (1) | 1 |
| Bipolar disorder | 30 | |
| Blinding eye disease | 18 | |
| Borderline NASH (fatty liver disease) | 2 | |
| Breast cancer | BRCA1 (3) | 3 |
| Brugada syndrome | 6 | |
| Buerger’s disease | 1 | |
| Cardiomyopathy | 48 | |
| Carpal tunnel syndrome | 18 | |
| Catecholaminergic polymorphic ventricular tachycardia | RYR2 (2) | 2 |
| Ccanavan Disease | ASPA (1) | 1 |
| Cchoroideremia (CHM) | CHM (1), NGLY1 (1) | 4 |
| Cerebral creatine deficiency syndrome 1 (CCDS1) | SLC6A8 (1) | 1 |
| Cerebral palsy (CP) | 19 | |
| Cerebrovascular disease | 4 | |
| Ceroid lipofuscinosis | CHM (1), CLN2 (1) | 2 |
| Charcot-Marie-Tooth disease | FIG4 (1), MFN2 (10), MPZ (2), PMP22 (7), VCP (1) | 22 |
| Chromosome 16p11.2 deletion syndrome | 5 | |
| Chronic inflammatory demyelinating polyneuropathy (CIDP) | 2 | |
| Chronic myeloid leukemia | 1 | |
| Congenital disorder of deglycosylation (CDDG) | CFTR (1) | 1 |
| Congenital heart block | 2 | |
| Congenital ichthyosis / Ichthyosis syndrome | 1 | |
| Congenital insensitivity to pain with anhidrosis (CIPA) | 2 | |
| Congenital myasthenic syndrome | GFPT1 (1) | 7 |
| Congenital myopathy | MTM11 (1) | 1 |
| Control | C9ORF72 (5), CCR5 (1), GFAP CORRECTED (2), HBB (1), HD (5), HNF1A (1), MECP2 (2), NGN2 (2), SNCA (1), SOD1 > D90A CORRECTED (1), TAF1 VARIANT CORRECTED (4) | 25 |
| Coronary artery disease | 43 | |
| Corticobasal degeneration (CBD） | 1 | |
| Crohn's disease | 3 | |
| Crow‐Fukase syndrome | 2 | |
| Cystic Fibrosis (CF) | DMPK (1) | 1 |
| Cystinosis | 1 | |
| DMD | DMD (5) | 5 |
| DMRV / GNE myopathy | 2 | |
| Danon disease | 1 | |
| Definite NASH (fatty liver disease) | 32 | |
| Diabetes | HNF1A (2) | 3 |
| Diabetes mellitus | 60 | |
| Diabetes mellitus type II | 12 | |
| Diabetes type I | 21 | |
| Diabetes type II | 95 | |
| Diabetes type unknown | 4 | |
| Diabetic retinopathy (DR) | 32 | |
| Diamond-Blackfan anemia | 1 | |
| Dilated cardiomyopathy (DCM) | 303 | |
| Distal Myopathy | 3 | |
| Down syndrome | 47,XX,+21 (4), 47,XY,+21 (3) | 8 |
| Dravet syndrome | SCN1A (11) | 11 |
| Drug-induced liver injury (DILI) | 4 | |
| Duchenne Muscular dystrophy (DMD) | DMD (1) | 2 |
| Dystrophia myotonica 1 (DM1) | DMPK (1) | 1 |
| Ehlers-Danlos syndrome | COL3A1 (1) | 2 |
| Eosinophilic granulomatosis with polyangiitis (EGPA) | 1 | |
| Eosinophilic sinusitis | 1 | |
| Epidermolysis bullosa | 1 | |
| Epilepsy | ALG13 (1), GABRA1 (1), KCNC1 (1), PCDH19 (2), SCN2A (1) | 57 |
| Fabry disease | 3 | |
| Facioscapulohumeral muscular dystrophy 1 (FSHD1) | LRIF1 (1) | 6 |
| Familial Mediterranean fever | 1 | |
| Fatty liver disease - steatosis (not NASH) | 2 | |
| Focal cortical dysplasia (FCD) | 2 | |
| Focal segmental glomerulosclerosis | 20 | |
| Fragile X syndrome | FMR1 (4) | 4 |
| Friedreich ataxia 1 (FRDA) | FXN (2) | 2 |
| Frontotemporal degeneration | C9ORF72 (4), GRN (4), MAPT (10), PGRN (2), VCP (1) | 25 |
| Frontotemporal dementia (FTD) | C9ORF72 (6), MAPT (15) | 30 |
| Frontotemporal lobar degeneration (FTLD) | 2 | |
| GM1-gangliosidosis | 1 | |
| Galactosialidosis | 1 | |
| Gaucher disease | GBA (1) | 2 |
| Giant cell arteritis (GCA) | 2 | |
| Glaucoma | 20 | |
| Glut1 deficiency syndrome 1 (Glut1DS1) | SLC2A1 (1) | 1 |
| Glycogen storage disease / GSD type V (muscle glycogen phosphorylase deficiency) | 1 | |
| Glycosylphosphatidylinositol(GPI) anchor deficiency | 3 | |
| Granulomatosis with polyangiitis (GPA) | 1 | |
| Hemiconvulsion-hemiplegia-epilepsy syndrome | 2 | |
| Hemimegalencephaly | 1 | |
| Hepatitis C (HCV) | 91 | |
| Hereditary dystonia | 1 | |
| Homozygous familial hypercholesterolemia | LDLR (6) | 6 |
| Hunter syndrome | 2 | |
| Huntington's disease (HD) | HD (14), HTT (36), IT15 (1), SMN1 (1) | 58 |
| Hurler syndrome | IDUA (1) | 1 |
| Hutchinson-gilford progeria syndrome (HGPS) | 2 | |
| Hyperalphalipoproteinemia | SR-BI (2) | 2 |
| Hypertrophic cardiomyopathy | TNNT2 (1) | 83 |
| Idiopathic aplastic anemia | 1 | |
| Idiopathic pulmonary arterial hypertension | 16 | |
| Idiopathic pulmonary fibrosis (IPF) | 182 | |
| Idiopathic thrombocytopenic purpura | 1 | |
| IgG4-related disease | 1 | |
| IgG4-related thyroid disease | 1 | |
| Inappropriate sinus tachycardia | 1 | |
| Infantile neuroaxonal dystrophy (INAD) | PLA2G6 (5) | 5 |
| Intellectual disability (ID) | 60 | |
| Interstitial lung disease | 1 | |
| Isaacs syndrome | 1 | |
| Isogenic control | 3 | |
| Kearns-sayre syndrome (KSS) | 1 | |
| Keratoconus | 2 | |
| Krabbe disease | GALC (1) | 1 |
| Landau-Kleffner syndrome | 1 | |
| Left ventricular hypertrophy | 15 | |
| Left ventricular non-compaction cardiomyopathy | 10 | |
| Lennox-Gastaut syndrome (LGS) | 2 | |
| Lesch-nyhan syndrome (LNS) | HPRT1 (1) | 1 |
| Lewy body dementia | 8 | |
| Lewy body dementia (LBD) | 1 | |
| Limb-girdle muscular dystrophy | DYSF (5) | 5 |
| Limb-girdle muscular dystrophy (LGMD2b) | DYSF (15) | 15 |
| Lissencephaly | DCX (1) | 1 |
| Long QT syndrome | 3 | |
| Long QT syndrome (familial) | 13 | |
| Long QT syndrome 1 (LQT1) | 3 | |
| Long QT syndrome 2 (LQT2) | KCNH2 (1) | 1 |
| Long QT syndrome 3 (LQT3) | SCN5A (1) | 1 |
| MELAS | 1 | |
| Malignant rheumatoid arthritis (MRA) | 1 | |
| Mental illness | DISC1 EXON 8 WILD-TYPE (2) | 2 |
| Mental retardation | CHAMP1 (2), SYNGAP1 (1) | 3 |
| Mesial temporal lobe epilepsy with hippocampal sclerosis | 2 | |
| Microscopic polyangiitis (MPA) | 1 | |
| Migraine disorder | MAJOR CHR17 AMPLIFCATION; MINOR CHR7 DELETION (1) | 28 |
| Mild left ventricular hypertrophy | 1 | |
| Miller-dieker lissencephaly syndrome (MDLS) | 1 | |
| Mitochondrial diseases | 1 | |
| Mixed Connective-Tissue Disease (MCTD) | 1 | |
| Monogenic diabetes | 13 | |
| Mortor dominant | 1 | |
| Moyamoya disease | 3 | |
| Mucopolysaccharidosis (MPS) | SGSH (1) | 3 |
| Multifocal motor neuropathy (MMN) | 1 | |
| Multiple sclerosis (MS) | 4 | |
| Multiple system atrophy (MSA) | 6 | |
| Muro disease (Kii ALS/PDC) | 3 | |
| Muscular dystrophy | DMD (5), LAMA2 (1), POMT2 (1) | 9 |
| Myasthenia Gravis (MG) | 1 | |
| Myocardial infarction | 18 | |
| Myoclonic epilepsy | CHD2 (1) | 1 |
| Myotonic dystrophy | CNBP (4), DMPK (1) | 9 |
| Nescav syndrome | KIF1A (5) | 6 |
| Neurodegeneration with brain iron accumulation 5 (NBIA5) | WDR45 (1) | 1 |
| Neurodevelopmental disorder | DHPS (1) | 1 |
| Neuroferritinopathy | 1 | |
| Neurofibromatosis type1 (NF1) | 1 | |
| Neurofibromatosis type2 (NF2) | 1 | |
| Neuromyelitis Optica | 4 | |
| Neuromyelitis Optica Spectrum Disorders (NMOSD) | 1 | |
| Neuronal migration disorder | PIK3R2 (1) | 3 |
| Neuropathy | GARS (2), SCN9A (6) | 39 |
| Niemann-pick disease | NPC1 (1), SMPD1 (3) | 5 |
| Non-als motor neurone disease | 1 | |
| Ohtahara syndrome | STXBP1 (1) | 1 |
| Ornithine transcarbamylase deficiency (OTCD) | 1 | |
| Osteogenesis imperfecta type iv (OI4) | COL1A2 (1) | 1 |
| PACS1 (Schuurs-Hoeijmakers) syndrome | PACS1 (2) | 2 |
| Pain agnosia | SCN11A (2) | 2 |
| Parkinsonism | GBA (2), LRRK2 (6), MAPT (1), PARK2 (4), PINK1 (1), SNCA (3) | 26 |
| Parkinson’s disease (PD) | GBA (18), LRRK2 (8), SNCA (9) | 99 |
| Paroxysmal nocturnal hemoglobinuria (PNH) | 1 | |
| Pemphigoid (including epidermolysis bullosa acquisita) | 2 | |
| Pemphigus | 2 | |
| Periodic paralysis | 1 | |
| Phenylketonuria | PAH PAH (1) | 2 |
| Pick's disease | 1 | |
| Pitt-hopkins syndrome (PTHS) | TCF4 (1) | 1 |
| Polyarteritis nodosa (PAN) | 2 | |
| Polymicrogyria | 1 | |
| Pompe’s disease (adult type) | 1 | |
| Primary antiphospholipid syndrome | 2 | |
| Primary erythromelalgia | SCN9A (2) | 4 |
| Primary immunodeficiency syndrome | 3 | |
| Primary lateral sclerosis (PLS) | 7 | |
| Primary open angle (POAG) | 20 | |
| Primary progressive aphasia (PPA) | 1 | |
| Progressive multifocal leukoencephalopathy (PML) | 1 | |
| Progressive supranuclea palsy (PSP) | 1 | |
| Prolonged QT interval | 6 | |
| Pulmonary arterial hypertension | ALK1 (2), BMPR2 (4) | 6 |
| Pulmonary atresia | 1 | |
| Pustular psoriasis | 1 | |
| Pyogenic sterile arthritis / Pyoderma gangrenosum and acne syndrome | 1 | |
| Rasmussen encephalitis | 2 | |
| Relapsing polychondritis (RP) | 1 | |
| Resolved systolic anterior motion | 1 | |
| Restrictive cardiomyopathy | 1 | |
| Retinitis pigmentosa | 5 | |
| Rett syndrome | FOXG1 (5), MECP2 (6), SHANK3 (1) | 15 |
| Right ventricular outflow tract premature ventricular contractions | 2 | |
| Ring chromosome 20 syndrome | 2 | |
| Sanfilippo syndrome / MPS IIIC (acetyl-CoA:heparan-α-Ｄ-glucosaminide N-acetyltransferase deficiency) | 1 | |
| Schizophrenia | 4 | |
| Semantic Dementia | 2 | |
| Severe combined immunodeficiency | ADA (2) | 2 |
| Sickle cell anemia | HBB (55) | 55 |
| Sjögren’s syndrome | 1 | |
| Skeletal displasia | 4 | |
| Small atrial septal defect | 1 | |
| Smith-magenis syndrome (SMS) | 1 | |
| Spinal muscular atrophy | SMN1 (14) | 18 |
| Spinal-Bulbar Muscular Atrophy (SBMA) | 10 | |
| Spinocerebellar Degeneration | 14 | |
| Spinocerebellar ataxia type 1 | 2 | |
| Spinocerebellar ataxia type 3 | ATXN3 (4) | 4 |
| Spondylometaphyseal displasia | 2 | |
| Stevens-Johnson syndrome (SJS) | 1 | |
| Sturge-Weber syndrome | 1 | |
| Subacute sclerosing panencephalitis (SSPE) | 2 | |
| Syringomyelia | 1 | |
| Systemic amyloidosis | 2 | |
| TNF receptor-associated periodic syndrome | 1 | |
| Takayasu arteritis | 3 | |
| Tangier disease | ABC1 (2), ABCA1 (4) | 6 |
| Tay-sachs disease (TSD) | HEXA (1) | 1 |
| Thrombotic thrombocytopenic purpura (TTP) | 1 | |
| Tricuspid atresia | 1 | |
| Tuberous sclerosis | TSC2 (2) | 3 |
| Ventricular tachycardia | 5 | |
| Vertebrobasilar insufficiency(VBI) | 1 | |
| Vici syndrome (VICIS) | EPG5 (1) | 1 |
| Werner syndrome | 1 | |
| West syndrome | 1 | |
| Wilson’s disease | 4 | |
| Wolfram syndrome | 1 | |
| Wolman disease | 1 | |
| X-linked creatine transporter deficiency | 1 | |
| X-linked dystonia Parkinsonism | TAF1 VARIANT (34) | 34 |
| Xeroderma pigmentosum | 2 |
