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.

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).

Source: Wang et.al., Molecular Therapy (Nov 2018)

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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