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 |