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Disease-specific iPS cells

＊ When you want to use some Disease-specific iPS cells, please e-mail to the following address.
＊ In relation to the information that are not described below, please e-mail to the following address.

Contact us : cellips.brcriken.jp

Blue letter cells are available. You obtain the information by clicking the blue letter.
*iPS cells created using the Sendai virus vector are now available

Genetic analysis of disease-specific iPS cells carried out in RIKEN BRC.
・Amyotrophic lateral sclerosis (ALS)
・Spinocerebellar degeneration

*Terms:
In relation to all iPS cell lines, approval of institutional review board and/or institutional ethical committee regarding the research using iPS cells is necessary.
In relation to all iPS cell lines, commercial use is prohibited.
In relation to the cell lines marked with ◎, (1) the recipient does not need to obtain an approval from the depositor, (2) there is no need of collaboration with the depositor, and (3) for-profit entities can also utilize.

Update : 2020.11.27

Disease groupNeuromuscular diseasesMetabolic diseasesSkin and connective tissue diseasesImmune diseasesCirculatory system diseasesHematologic diseasesKidney and urologic diseasesBone, cartilage, and articular diseasesEndocrine diseasesRespiratory tract diseasesEye diseasesOtorhinolaryngologic diseasesDigestive system diseasesDiseases due to chromosomal aberrations and gene mutationsOther diseasesHealthy relatives of patientsHealthy individuals (Clinical information is available only for users in Japan)Healthy individuals
Disease group Diseases Patients Cell line
Neuromuscular diseases 62 305 1201
Metabolic diseases 9 40 168
Skin and connective tissue diseases 8 23 126
Immune diseases 23 53 25
Circulatory system diseases 3 28 60
Hematologic diseases 8 26 128
Kidney and urologic diseases 7 17 67
Bone, cartilage, and articular diseases 11 41 126
Endocrine diseases 9 25 130
Respiratory tract diseases 9 19 106
Eye diseases 4 15 26
Otorhinolaryngologic diseases 1 1 3
Digestive system diseases 8 19 114
Diseases due to chromosomal aberrations and gene mutations 18 25 118
Other diseas 51 116 476
Total 231 753 3110
Diseases Patients Cell line
Healthy relatives of patients 9 13 64
Healthy individuals
(Clinical information is available only for users in Japan)		 58 343
Healthy individuals 59 311
Total 9 130 718
Name of diseases Patient Cell line
Neuromuscular diseases
1 Spinal-Bulbar Muscular Atrophy (SBMA) 3 12
2 Amyotrophic lateral sclerosis (ALS) 67 256
3 Spinal muscular atrophy 4 16
4 Primary lateral sclerosis (PLS) 3 10
5 Progressive supranuclea palsy (PSP)  1 5
6 Parkinson’s disease (PD) 8 34
7 Corticobasal degeneration (CBD) 1 6
8 Huntington’s disease 2 7
9 Charcot-Marie-Tooth disease 11 23
10 Myasthenia Gravis (MG) 1 6
11 Congenital myasthenic syndrome 7 27
12 Multiple sclerosis (MS) / Neuromyelitis Optica Spectrum Disorders (NMOSD) 4 24
13 Chronic inflammatory demyelinating polyneuropathy (CIDP) / multifocal motor neuropathy (MMN) 2 12
14 Inclusion body myositis 2 4
15 Crow‐Fukase syndrome 2 10
16 Multiple system atrophy (MSA) 6 19
17 Spinocerebellar Degeneration 30 104
18 Moyamoya disease 4 21
19 Subacute sclerosing panencephalitis (SSPE) 2 12
20 Progressive multifocal leukoencephalopathy (PML) 1 5
21 Fahr disease 7 17
22 Ullrich congenital muscular dystrophy 2 4
23 Distal Myopathy 9 42
24 Bethlem myopathy 3 11
25 Danon disease 2 2
26 Schwartz-Jampel syndrome (SJS) 1 3
27 Congenital myopathy 4 15
28 Muscular dystrophy 31 107
29 Periodic paralysis 1 4
30 Syringomyelia 1 5
31 Isaacs syndrome 1 6
32 Hereditary dystonia 4 13
33 Neuroferritinopathy 1 1
34 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL) 7 7
35 Perry syndrome 1 3
36 Frontotemporal lobar degeneration (FTLD) 3 14
37 Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)  1 6
38 Congenital insensitivity to pain with anhidrosis 2 8
39 Alexander disease 5 25
40 Aicardi syndrome 1 6
41 Hemimegalencephaly 1 6
42 Focal cortical dysplasia (FCD) 2 12
43 Neuronal migration disorder 3 18
44 Dravet syndrom 3 18
45 Mesial temporal lobe epilepsy with hippocampal sclerosis 2 12
46 Epilepsy with myoclonic absence (EMA) 2 12
47 Epilepsy with myoclonic-astatic seizures 1 6
48 Lennox-Gastaut syndrome (LGS) 2 12
49 West syndrome 1 6
50 Ohtahara syndrome 1 6
51 Hemiconvulsion-hemiplegia-epilepsy syndrome 2 12
52 Ring chromosome 20 syndrome 2 12
53 Rasmussen encephalitis 2 12
54 PCDH19 epilepsy 2 12
55 Epilepsy with continuous spikes and waves during slow sleep 3 18
56 Landau―Kleffner syndrome 1 6
57 Rett syndrome 6 36
58 Sturge-Weber syndrome 1 6
59 Tuberous sclerosis complex (TSC) 1 6
60 Xeroderma pigmentosum 5 18
61 Angelman syndrome 11 26
62 Glycosylphosphatidylinositol(GPI) anchor deficiency  3 17
Total 305 1201
Name of diseases Patient Cell line
Metabolic diseases
1 lysosomal storage disease 17 81
2 Adrenoleukodystrophy (ALD) 2 12
3 Mitochondrial diseases 6 16
4 Amyloid neuropathy, 4 17
5 Wilson’s disease 4 18
6 Phenylketonuria 1 6
7 Ornithine transcarbamylase deficiency (OTCD 1 1
8 Glycogen storage disease 3 15
9 Glycogen storage disease 2 4
Total 40 168
Name of diseases Patient Cell line
Skin and connective tissue diseases
1 Neurofibromatosis 3 18
2 Pemphigus 4 24
3 Pustular psoriasis 1 6
4 Stevens-Johnson syndrome (SJS) 1 6
5 Systemic sclerosis (SSc) 7 36
6 Congenital ichthyosis 1 6
7 Pemphigoid 3 18
8 Ehlers-Danlos syndrome 3 12
Total 23 126
Name of diseases Patient Cell line
Immune diseases
1 Takayasu arteritis 4 24
2 Giant cell arteritis (GCA) 3 18
3 Polyarteritis nodosa (PAN) 2 12
4 Microscopic polyangiitis （MPA) 2 12
5 Granulomatosis with polyangiitis (GPA) 2 12
6 Eosinophilic granulomatosis with polyangiitis (EGPA) 3 18
7 Malignant rheumatoid arthritis (MRA) 2 12
8 Buerger’s disease 2 12
9 Primary antiphospholipid syndrome, APS with venous and 2 12
10 Systemic lupus erythematosus (SLE) 5 16
11 Dermatomyositis (DM)/Polymyositis (PM) 7 18
12 Mixed Connective-Tissue Disease (MCTD) 2 12
13 Sjögren’s syndrome 2 10
14 Adult-onset Still’s disease (AOSD) 2 12
15 Relapsing polychondritis (RP) 1 6
16 Behçet’s disease 3 18
17 Chronic infantile neurological cutaneous and articular syndrome (CINCA syndrome) 2 3
18 TNF receptor-associated periodic syndrome  1 6
19 Familial Mediterranean fever 1 6
20 Nakajo-Nishimura Syndrome 2 2
21 Pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome  1 6
22 IgG4-related disease 1 6
23 Eosinophilic sinusitis 1 6
Total 53 259
Name of diseases Patient Cell line
Circulatory system diseases
1 Dilated cardiomyopathy (DCM) 17 34
2 Hypertrophic cardiomyopathy (HCM) 8 18
3 Tricuspid atresia 1 6
Total 28 60
Name of diseases Patient Cell line
Hematologic diseases
1 Aplastic anemi 1 6
2 Autoimmune hemolytic anemia (AHA) 1 6
3 Paroxysmal nocturnal hemoglobinuria (PNH) 3 16
4 Idiopathic thrombocytopenic purpura 2 12
5 Thrombotic thrombocytopenic purpura (TTP) 1 6
6 Primary immunodeficiency syndrome (PIDS) 13 48
7 Diamond-Blackfan anemia 3 26
8 Fanconi anemia 2 8
Total 26 128
Name of diseases Patient Cell line
Kidney and urologic diseases
1 IgA nephropathy 3 18
2 Polycystic Kidney disease 9 24
3 Atypical hemolytic uremic syndrome (aHUS) 1 6
4 Galloway-Mowat syndrome 1 1
5 Rapidly progressive glomerulonephritis 1 6
6 Anti-glomerular basement membrane antibody (GBM) 1 6
7 Primary nephrotic syndrome 1 6
Total 17 67
Name of diseases Patient Cell line
Bone, cartilage, and articular diseases
1 Ossification of the yellow ligament (OYL) 1 6
2 Ossification of posterior longitudinal ligament 1 6
3 Spinal stenosis 1 4
4 Idiopathic osteonecrosis of femoral Head 1 6
5 Hypophosphatasia 3 8
6 Vitamin D resistant rickets / Osteomalacia 2 7
7 Ａnkylosing spondylitis 1 6
8 Fibrodysplasia ossificans progressiva (FOP) 2 3
9 Osteogenesis Imperfecta 12 33
10 Ｔhanatophoric dysplasi 1 6
11 Achondroplasia 16 41
Total 41 126
Name of diseases Patient Cell line
Endocrine diseases
1 Disorders of pituitary ADH secretion 6 25
2 Pituitary hypersecretion of TSH 1 6
3 Hyperprolactinemia 1 6
4 Pituitary hypersecretion of growth hormon 2 12
5 Hypopituitarism 8 39
6 Resistance to Thyroid Hormone 2 12
7 Congenital Adrenal enzyme deficiency 3 18
8 Addison’s disease 1 6
9 Hypoparathyroidism 1 6
Total 25 130
Name of diseases Patient Cell line
Respiratory tract diseases
1 Sarcoidosis 2 12
2 Idiopathic interstitial pneumonia 3 13
3 Pulmonary hypertension 4 21
4 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis 2 12
5 Idiopathic chronic pulmonary thromboembolism with pulmonary hypertension 2 12
6 Lymphangioleiomyomatosis 3 18
7 Pulmonary alveolar proteinosis (PAP) 1 6
8 Alveolar hypoventilation syndrome (AHS) 1 6
9 Congenital diaphragmatic hernia 1 6
Total 19 106
Name of diseases Patient Cell line
Eye diseases
1 Retinitis pigmentosa 8 12
2 Macular degeneration 3 9
3 Leber Hereditary Optic Neuropathy 3 3
4 Gelatinous drop-like corneal dystrophy 1 2
Total 15 26
Name of diseases Patient Cell line
Otorhinolaryngologic diseases
1 Branchio-oto-renal syndrome 1 3
Total 1 3
Name of diseases Patient Cell line
Digestive system diseases
1 Primary biliary cirrhosis (PBC) 5 30
２ Primary sclerosing cholangitis (PSC) 1 6
３ Autoimmune hepatitis (AIH) 3 18
４ Crohn’s disease 4 24
５ Ulcerative colitis 3 18
６ Eosinophilic ｇastro-intestinal disorde 1 6
７ hronic nonspecific multiple ulcers of the small intestine 1 6
8 Hirschsprung’s disease 1 6
Total 19 114
Name of diseases Patient Cell line
Diseases due to chromosomal aberrations and gene mutations
2 Rubinstein-Taybi syndrom 1 6
2 CFC syndrome 1 6
3 Pachydermoperiostosis, possible case 1 6
4 Williams syndrome  2 12
5 ATR-X syndrome 2 5
6 Coffin-Siris syndrome 1 6
7 Kabuki syndrome  1 6
8 Werner syndrome 1 6
9 Cockayne’s syndrome 1 2
10 Prader-Willi Syndrome 3 8
11 Sotos Syndrome 2 12
12 Noonan syndrome 1 2
13 1p36 deletion syndrome 1 6
14 4p deletion syndrome 1 5
15 5p deletion syndrome 2 12
16 Smith-Magenis syndrome 1 6
17 22q11.2 deletion syndrome 2 10
18 Epstein syndrome 1 3
Total 25 118
Name of diseases Patient Cell line
Other diseases
1 Bardet-Biedl syndrome 1 2
2 Congenital Neutropenia, Kostmann syndrome 1 3
3 Juvenile nephronophthisis 2 6
4 Pendred Syndrome 3 3
5 Alzheimer’s disease 19 24
6 Dementia of Alzheimer’s type 1 7
7 Epilepsy 7 10
8 Age-related Macular Degeneration 2 12
9 Bietti crystalline retinopathy 4 24
10 Morphea with autoimmune hepatitis 1 6
11 Rheumatoid Arthritis 6 38
12 Reducing body myopathy 2 4
13 Bernard-Soulier syndorome 1 2
14 Langerhans cell histiocytosis 2 12
15 Refractory nephrotic syndrome 2 12
16 Muro disease (Kii ALS/PDC) 3 3
17 RAS-associated autoimmune leukoproliferative disorder (RALD) 2 7
18 Atopic dermatitis 1 1
19 Allergic rhinitis (Pollen allergy) 1 1
20 Colorectal cancer 3 22
21 Fulminant hepatitis 4 9
22 Familial atrial fibrillation / Sick sinus syndrome 4 4
23 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 1 2
24 Pancreatitis 3 18
25 Myelodysplastic syndromes  1 1
26 Lichen sclerosus et atrophicus 2 12
27 Protein S deficiency 1 6
28 Intrahepatic stones 1 2
29 Secondary antiphospholipid syndrome 1 6
30 Ossification of anterior longitudinal ligament 1 6
31 Primary aldosteronism 1 6
32 Guillain-Barré syndrome 1 6
33 Diffuse panbronchiolitis 1 6
34 Myelofibrosis 1 3
35 Aicardi Goutiares syndrome  1 6
36 Multiple endocrine neoplasia  1 6
37 Von Hippel-Lindau disease 3 18
38 Hereditary pheochromocytoma/ paraganglioma syndrome 1 6
39 Congenital metabolic disorder  1 6
40 NGLY1 deficiency  3 18
41 Autism spectrum disorde  3 18
42 Congenital diabetes insipidus  1 6
43 Developmental delay, epilepsy, neonatal diabetes  1 6
44 Hypochondroplasia 2 3
45 Familial adenomatous polyposis  2 6
46 Gastric cancer  2 32
47 Retinoblastoma  3 46
48 X-linked thrombocytopenia (XLT) 1 3
49 Spastic paraplegia 1 3
50 Downsyndrome 2 6
51 Congenital muscle type laminopathy 1 3
Total 116 478
Patients Cell line
Healthy relatives of patients
1 Healthy relatives of patients (Miyoshi myopathy) 1 3
2 Healthy relatives of patients (Danon disease) 1 2
3 Healthy relatives of patients (Hypertrophic cardiomyopathy (HCM)) 1 2
4 Healthy relatives of patients (Myotubular myopathy) 1 3
5 Healthy relatives of patients (Branchio-oto-renal syndrome) 1 3
6 Healthy relatives of patients (Diamond-Blackfan anemia) 1 12
7 Healthy relatives of patients （Epstein syndrome） 1 3
8 Healthy relatives of patients (Rheumatoid Arthritis) 1 6
9 Healthy relatives of patients (NGLY1 deficiency) 5 30
Total 13 64
Patients Cell line
Healthy individuals
(Clinical information is available only for users in Japan)
1 30s　Male 10 60
2 30s　Female 3 18
3 40s　Male 10 60
4 40s　Female 3 18
5 50s　Male 10 59
6 50s　Female 3 17
7 60s　Male 10 60
8 70s　Male 8 47
9 80s　Male 1 6
Total 58 343
Patients Cell line
Healthy individuals
1 10s　Female 1 1
2 20s　Male 1 1
3 30s　Male 7 30
4 40s　Male 9 51
5 40s　Female 7 38
6 50s　Male 3 18
6 50s　Female 11 66
7 60s　Male 8 45
9 60s　Female 6 27
10 70s　Male 3 18
11 70s　Female 2 10
12 80s　Female 1 6
Total 59 311


 

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