Disease Modeling
Human-relevant iPSC disease models built on reproducible differentiation technology, supporting confident decisions in preclinical research and drug discovery.
iPSC-Derived Disease Modeling for Drug Discovery
Ricoh Biosciences develops iPSC disease models designed to support target identification, phenotypic assay development, and compound evaluation. By leveraging patient-derived iPSC models and consistent differentiation workflows, we help research teams generate biologically meaningful data aligned with modern discovery needs.
Our disease modeling capabilities span multiple therapeutic areas, including neurodegenerative disease modeling, with dedicated programs supporting Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), and beyond.
Disease Models
Alzheimer's Disease
Our Alzheimer's Disease panel uses patient-derived iPSC neurons from 10 sporadic AD donors and 4 healthy controls, covering the full APOE spectrum. Every line comes with baseline Aβ40/42, tau, pTau, exome, and RNA-seq data, and RNA-seq resolves the AD donors into four molecular subtypes.
Healthy Donor
Sporadic ALS
Amyotrophic Lateral Sclerosis (ALS)
Our ALS disease model uses patient-derived iPSC motor neurons that spontaneously develop hallmark ALS pathology, including TDP-43 mislocalization from the nucleus to the cytoplasm, reduced survival, and neurite deficits. Models span sporadic ALS and C9orf72, SOD1, and TARDBP mutations.
Our Disease Modeling Platform
Ricoh Biosciences specializes in human disease modeling using patient-derived and control iPSCs. Our proprietary differentiation technology enables consistent generation of disease-relevant cell types suitable for functional and phenotypic assays.
The platform supports:
- Reproducible differentiation across multiple iPSC donor backgrounds
- Generation of specialized cell types relevant to disease biology
- Preservation of disease-associated cellular features for discovery-stage research
Key Advantages of iPSC Disease Modeling
Human-Relevant Biology
Study disease-associated cellular pathways directly in human systems.
Patient-Specific Modeling
Evaluate disease phenotypes across genetically diverse donor backgrounds.
Scalable and Flexible Systems
Adaptable across assay formats, from mechanistic studies to screening.
Built for Preclinical Research
Designed to support modern preclinical disease modeling strategies.
Disease Modeling Applications
Ricoh Biosciences' disease modeling services support a wide range of discovery-stage applications.
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01
Target Identification and Validation Confirm disease relevance of candidate targets using patient-derived cellular phenotypes.
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02
Phenotypic Assay Development Establish quantitative, disease-relevant readouts suited for downstream screening.
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03
Compound Screening and Prioritization Rank candidate compounds based on functional rescue of disease-associated phenotypes.
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04
Mechanism-of-Action Studies Characterize how candidate therapeutics modulate disease-relevant pathways.
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05
Biomarker-Focused Research Identify and validate biomarkers linked to disease progression and treatment response.
How We Support Your Program
Ricoh Biosciences provides end-to-end support for iPSC disease modeling, combining scientific expertise with flexible project execution.
- Access to patient-derived and control iPSC lines
- Extensive differentiation expertise across disease-relevant cell types
- Rapid project initiation and customizable study designs
- Experience supporting translational and preclinical research programs
- A collaborative approach focused on data quality and reproducibility
Disease Modeling Resources
Human iPSC-Derived Tri-Culture System of Excitatory Neurons, Astrocytes, and Microglia Enabled by Quick-Tissue™ Technology for Functional Neuroinflammation Modeling
View →Patient-Derived iPSC Neuronal Models Reveal Alzheimer’s Disease-Associated Pathology and Provide a Platform for Drug Discovery
View →Modeling ALS Using Patient-Derived iPSCs: A Human-Relevant Platform for Disease Research and Therapeutic Discovery
View →Build Disease Models That Matter: The Power of Custom iPSC Differentiation
Watch →Predicting Clinical Efficacy with Alzheimer’s Disease iPSC Panels
Watch →Unlocking the Secrets of Alzheimer’s, Epilepsy, & More with iPSC Technology
Watch →List of Diseases and Mutations
Quick Tissue™ technology enables the study of human disease in vitro using physiologically relevant, patient-derived cell models. The growing availability of patient-derived iPSC lines has made thousands of disease- and mutation-specific models accessible for in vitro research, spanning a broad range of human diseases.
Explore the database below to identify diseases of interest, associated mutant genes, and the number of available patient iPSC lines. Contact us to learn how we can support your research with differentiated cell types from the most relevant iPSC lines for you.
| Disease | Mutant Genes (# of iPSC Lines) | 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 |
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