Disease modeling, specifically using induced Pluripotent Stem Cells (iPSCs), has transformed how researchers understand and approach human biology. This innovation offers unprecedented possibilities for in vitro models of neurodegenerative diseases, among others, providing enhanced precision and applicability.
Disease Modeling
Why Disease Modeling with Human iPSC-derived Cells?
The concept of iPSC disease modeling traces its roots back to 2006 when Shinya Yamanaka first discovered the ability to reprogram somatic cells into pluripotent stem cells. This breakthrough unlocked numerous benefits, ranging from creating more representative models of cells to drug screening and therapeutic discovery.
What are required?
iPSC disease modeling involves reprogramming somatic cells from patients with a specific disease into pluripotent stem cells. These iPSCs retain the patient's genetic makeup, allowing scientists to differentiate them into any cell type for study, including those implicated in neurodegenerative diseases like ALS and Alzheimer's. This process enables more accurate in vitro modeling and allows us to better understand disease pathogenesis, drug response, and potentially develop treatment strategies.
Advantages Against Other Alternative Modeling Methods
iPSC disease modeling presents unique advantages over other traditional methods, such as primary cells, other cell lines, and animal models. Primary cells are limited by their short lifespan and variable performance, while other cell lines often lack the genetic background of the disease. Animal models, while useful, cannot fully replicate human biology and disease states.
iPSC-derived models, on the other hand, overcome these barriers. They are patient-specific, enabling the recapitulation of complex genetic backgrounds and diseases. As a result, iPSC models offer superior physiological relevance in studies related to neurodegenerative diseases, such as ALS (using ALS iPSCs) and Alzheimer's disease (using stem cells).
Challenges in Exploring Therapeutic Discovery with iPSC-based Disease Modeling
While iPSC disease modeling presents significant advantages, several challenges remain. These include maintaining and differentiating iPSC cultures, ensuring robustness and reproducibility of the models, and sourcing disease-specific iPSC lines.
How Elixirgen Scientific iPSC Differentiation Technology Could Help
Elixirgen Scientific provides tailored solutions to mitigate these hurdles. They assist in pinpointing which iPSC banks might hold the disease-specific lines relevant to the client's interests and aid in streamlining the acquisition process from these banks. However, it's important to keep in mind that there could be unexpected obstacles along the way (check this page to learn about our experiences). Leveraging their proficiency in iPSC culture and differentiation, Elixirgen Scientific is capable of creating a wide array of downstream assays with consistent outcomes. Their bespoke differentiation technology further empowers the creation of various cell types, leading to a more thorough approach in disease modeling.
Disease Modeling Examples
Elixirgen Scientific's differentiation technology has been instrumental in a number of notable projects. For instance, it was used to model Alzheimer's disease with iPSC-derived neurons. This enabled a deeper understanding of the disease and contributed to stem cell research for Alzheimer's.
In another study, ALS was modeled using TDP-43 and SOD1 mutant lines, revealing key aspects of disease progression and potential therapeutic targets. Similarly, Duchenne Muscular Dystrophy (DMD) was modeled using patient and CRISPR corrected lines, providing valuable insights into the disease's pathology.
Through these examples and others, it is clear that disease modeling with iPSC-derived cells is a powerful tool for studying human biology, especially in the context of neurodegenerative diseases. With technologies like those provided by Elixirgen Scientific, researchers can continue to advance our understanding of these complex conditions and pave the way for innovative therapeutic solutions.
Alzheimer's Disease

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
Amyotrophic lateral sclerosis (ALS)

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
Myotonic Dystrophy Type 1

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).
How Can We Help?
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 (Available Differentiated cells)
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 (Available Differentiated cells)
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 (Available Differentiated cells)
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