Overview
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NYSCF_Scientific_Discovery_Bio["NYSCF Scientific Discovery Biobank (NCT06203106)"] -->|"references"| APOE["APOE"]
NYSCF_Scientific_Discovery_Bio["NYSCF Scientific Discovery Biobank (NCT06203106)"] -->|"references"| OCT4["OCT4"]
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The New York Stem Cell Foundation (NYSCF) Scientific Discovery Biobank (NCT06203106) is a large-scale observational repository established to collect and characterize biospecimens from patients with neurodegenerative diseases. This biobank represents one of the most comprehensive stem cell resources for neurodegenerative disease research globally, enabling researchers worldwide to access patient-derived induced pluripotent stem cell (iPSC) lines for disease modeling, drug screening, and mechanistic studies.
Study Details
- NCT Number: NCT06203106
- Status: Recruiting
- Study Type: Observational/Biobank
- Conditions: Progressive Supranuclear Galsy (PSP), Parkinson's Disease (PD), Alzheimer's Disease (AD), Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Corticobasal Syndrome (CBS), Huntington's Disease (HD)
- Sponsor: The New York Stem Cell Foundation
- Sites: New York, NY and collaborating academic medical centers
- Enrollment Target: Not specified (ongoing recruitment)
Background and Rationale
...Overview
Mermaid diagram (expand to render)
The New York Stem Cell Foundation (NYSCF) Scientific Discovery Biobank (NCT06203106) is a large-scale observational repository established to collect and characterize biospecimens from patients with neurodegenerative diseases. This biobank represents one of the most comprehensive stem cell resources for neurodegenerative disease research globally, enabling researchers worldwide to access patient-derived induced pluripotent stem cell (iPSC) lines for disease modeling, drug screening, and mechanistic studies.
Study Details
- NCT Number: NCT06203106
- Status: Recruiting
- Study Type: Observational/Biobank
- Conditions: Progressive Supranuclear Galsy (PSP), Parkinson's Disease (PD), Alzheimer's Disease (AD), Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Corticobasal Syndrome (CBS), Huntington's Disease (HD)
- Sponsor: The New York Stem Cell Foundation
- Sites: New York, NY and collaborating academic medical centers
- Enrollment Target: Not specified (ongoing recruitment)
Background and Rationale
Neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, PSP, ALS, and others share common pathophysiological features including protein aggregation, mitochondrial dysfunction, neuroinflammation, and progressive neuronal loss. However, the mechanistic basis for these diseases remains incompletely understood, partly due to the limited availability of relevant human cellular models.
Patient-derived iPSCs offer a transformative approach to neurodegenerative disease research by enabling researchers to:
Generate patient-specific cellular models that retain the genetic background of individual donors
Differentiate iPSCs into disease-relevant cell types including dopaminergic neurons (for PD), motor neurons (for ALS), and cortical neurons (for AD)
Study disease mechanisms in a human context that is not fully recapitulated in animal models
Perform high-throughput drug screening on human disease-relevant cells
Develop personalized medicine approaches based on individual patient geneticsThe NYSCF biobank addresses the critical need for standardized, well-characterized iPSC lines from patients with diverse neurodegenerative conditions. By providing access to these valuable resources, the NYSCF accelerates the pace of discovery research and facilitates the development of novel therapeutic interventions.
Objectives
Primary Objectives
Biospecimen Collection: Collect blood samples from patients with clinically diagnosed neurodegenerative diseases
iPSC Generation: Generate and characterize high-quality iPSC lines from patient-derived blood cells
Clinical Phenotyping: Document detailed clinical phenotypes including disease severity, progression rate, and treatment history
Resource Distribution: Provide iPSC lines and associated clinical data to qualified researchers worldwideSecondary Objectives
Genomic Characterization: Perform whole genome sequencing or targeted genetic panels on donor samples
Phenotypic Characterization: Characterize iPSC-derived cells for disease-relevant markers and functional properties
Longitudinal Follow-up: Track clinical outcomes over time to correlate genotype with phenotype
Biobank Expansion: Continuously expand the collection to include additional disease subtypes and genetic variantsSample Collection and Processing
Biospecimen Types
| Specimen Type | Purpose | Processing |
|---------------|---------|------------|
| Peripheral Blood Mononuclear Cells (PBMCs) | Reprogramming to iPSCs | Ficoll density gradient separation |
| Plasma | Biomarker studies | Centrifugation and aliquoting |
| Serum | Protein biomarker analysis | Clotting and centrifugation |
| DNA | Genetic analysis | Extracted from PBMCs |
| RNA | Gene expression studies | Stored in RNA preservation buffers |
Reprogramming Protocol
The NYSCF employs a non-integrative reprogramming methodology to generate iPSC lines. This approach utilizes:
- Sendai virus vectors encoding OCT4, SOX2, KLF4, and c-MYC (the Yamanaka factors)
- Feeder-free culture conditions on defined matrix substrates
- Automated quality control including sterility testing, mycoplasma screening, and pluripotency verification
The resulting iPSC lines are carefully characterized to ensure:
- Normal karyotype (absence of chromosomal abnormalities)
- Pluripotency marker expression (TRA-1-60, TRA-1-81, SSEA-4, OCT4)
- Ability to differentiate into all three germ layers (ectoderm, mesoderm, endoderm)
Research Applications
Disease Modeling
The iPSC lines in the NYSCF biobank have been used to create disease models for multiple neurodegenerative conditions:
Parkinson's Disease Models:
- iPSC-derived dopaminergic neurons from PD patients have revealed disease-specific phenotypes including:
- Reduced neurite outgrowth and branching
- Increased susceptibility to oxidative stress
- Mitochondrial dysfunction and reduced ATP production
- Alpha-synuclein accumulation and aggregation
- Studies comparing monozygotic twins discordant for PD have identified epigenetic and gene expression differences that may underlie disease susceptibility[@nyscf_ipsc_dopamine]
Alzheimer's Disease Models:
- NYSCF iPSC lines from patients with familial AD mutations (PSEN1, PSEN2, APP) have enabled:
- Identification of disease-specific molecular subtypes through RNA sequencing[@nyscf_alzheimers_subtyping]
- Demonstration of amyloid-beta and tau pathology in patient-derived neurons
- CRISPR/Cas9-mediated correction of mutations with reversal of phenotypes[@nyscf_psen2_crispr]
- Studies of autophagy and mitophagy defects in AD neurons[@nyscf_bexarotene_autophagy]
- Characterization of PSEN1 familial AD neural progenitors[@nyscf_pasen1_ipsc]
Amyotrophic Lateral Sclerosis Models:
- Motor neurons derived from ALS patient iPSCs have been used to study:
- TDP-43 proteinopathy
- RNA metabolism defects
- Mitochondrial dysfunction
- Axonal transport deficits
Drug Discovery and Screening
The NYSCF biobank supports high-throughput drug screening campaigns by providing:
Well-characterized cell lines representing diverse genetic backgrounds
Differentiated cells at defined developmental stages
Standardized protocols for differentiation and assay development
Access to clinical data enabling stratification of cell lines by disease phenotypeMechanistic Studies
Researchers have employed NYSCF iPSC lines to investigate fundamental mechanisms of neurodegeneration:
- Neuroinflammation: Studies on patient-derived astrocytes and microglia have revealed disease-specific inflammatory signatures[@nyscf_reactive_astrocytes_2023]
- Protein aggregation: Direct visualization of alpha-synuclein, tau, and TDP-43 aggregation in living neurons
- Mitochondrial biology: Assessment of mitochondrial function using Seahorse extracellular flux analysis
- Calcium signaling: Investigation of calcium dysregulation as a common pathogenic mechanism
Eligibility Criteria
Inclusion Criteria
Age: 18-85 years
Diagnosis: Confirmed diagnosis of a qualifying neurodegenerative disease by a board-certified neurologist
Capacity to provide informed consent: Ability to understand and voluntarily sign the consent form
Willingness to provide blood sample: Agreeable to venipuncture for biospecimen collectionExclusion Criteria
Previous iPSC generation: Individuals who have already participated in iPSC reprogramming studies
Active malignancy: Current diagnosis of cancer (except non-melanoma skin cancer)
Active infection: Current serious infection including HIV, hepatitis B, or hepatitis C
Pregnancy: Current pregnancy or planning pregnancy within the study periodSignificance and Impact
Resource Metrics
The NYSCF biobank has established itself as a critical resource for the neurodegenerative disease research community:
- Over 1,000 patient-derived iPSC lines representing multiple disease categories
- Distribution to over 100 research institutions worldwide
- Contributions to hundreds of peer-reviewed publications advancing understanding of neurodegenerative disease mechanisms
- Partnership with pharmaceutical companies for drug discovery and validation
Scientific Contributions
The biobank has enabled numerous scientific discoveries including:
Identification of novel disease mechanisms through comparative studies of patient-derived cells
Validation of therapeutic targets using human cellular models
Biomarker discovery through proteomic and metabolomic profiling
Personalized medicine approaches based on individual patient geneticsCollaborative Network
The NYSCF has established partnerships with:
- Academic medical centers specializing in movement disorders and dementia
- Industry partners for drug discovery collaborations
- International stem cell repositories for resource sharing
- Patient advocacy organizations for recruitment and outreach
Data Access and Sharing
Access Process
Researchers interested in obtaining iPSC lines from the NYSCF biobank must:
Submit a research proposal describing the scientific rationale and experimental plan
Obtain institutional approval (IRB or ethics committee)
Complete a materials transfer agreement (MTA)
Pay applicable fees for cell lines and shippingData Available
The NYSCF provides the following data with each iPSC line:
| Data Type | Description | Format |
|-----------|-------------|--------|
| Clinical Data | Diagnosis, disease duration, medications, clinical scores | De-identified CSV |
| Genetic Data | Known disease mutations, APOE genotype | VCF or CSV |
| Phenotypic Data | Differentiation efficiency, marker expression | PDF reports |
| Quality Control | Mycoplasma status, karyotype, sterility | Certificate of analysis |
Similar Biobanks and Registries
NIH PSP Biospecimen Repository: Collection of biospecimens from PSP patients
Michael J. Fox Foundation Parkinson's Progression Markers Initiative (PPMI): Longitudinal PD cohort with biospecimens
UPenn Neurodegenerative Disease Repository: iPSC lines from AD, PD, and FTD patients
Coriell Institute for Medical Research: Human genetic cell repositoryRelated Pages
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Progressive Supranuclear Galsy](/diseases/progressive-supranuclear-palsy)
- [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
- [Induced Pluripotent Stem Cells](/mechanisms/ipsc-neurodegeneration)
- [iPSC Disease Modeling](/mechanisms/ipsc-disease-modeling)
External Links
- [NYSCF Biobank - ClinicalTrials.gov](https://clinicaltrials.gov/study/NCT06203106)
- [NYSCF Stem Cell Repository](https://www.nyscf.org/partnering/products/)
- [NYSCF Research Institute Publications](https://www.nyscf.org/research-institute/publications/)
References
[NYSCF Biobank - ClinicalTrials.gov](https://clinicaltrials.gov/study/NCT06203106)
[iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson's Disease (2014)](https://doi.org/10.1016/j.celrep.2014.09.023)
[Molecular subtyping of Alzheimer's disease using RNA sequencing data reveals novel mechanisms and targets (2021)](https://doi.org/10.1126/sciadv.abc9284)
[CRISPR/Cas9-Correctable mutation-related molecular and physiological phenotypes in iPSC-derived Alzheimer's PSEN2 N141I neurons (2017)](https://doi.org/10.1186/s40478-017-0421-z)
[Autophagy Induction by Bexarotene Promotes Mitophagy in Presenilin 1 Familial Alzheimer's Disease iPSC-Derived Neural Stem Cells (2019)](https://doi.org/10.1007/s12035-019-1468-7)
[Characterization and Molecular Profiling of PSEN1 Familial Alzheimer's Disease iPSC-Derived Neural Progenitors (2014)](https://doi.org/10.1371/journal.pone.0094103)
[Deep learning and automated Cell Painting reveal Parkinson's disease-specific signatures in primary patient fibroblasts (2020)](https://doi.org/10.1101/2020.06.15.153395)
[Proteomic profiling of interferon-responsive reactive astrocytes in rodent and human (2023)](https://doi.org/10.1002/glia.24308)