Specimens
Request Cell Lines
Fibroblasts and induced pluripotent stem cell (iPSC) lines from PPMI subjects are also available for approved researchers.
Because cell lines are more renewable than other biospecimens, the evaluation criteria for cell lines requests are different. PPMI cell lines may be requested for biomarker discovery work. In addition, investigators interested in conducting research in other neurodegenerative disease areas are also welcome to apply for access to cell lines.
A partnership with the New York Stem Cell Foundation produced fibroblasts and iPSCs derived from skin biopsies from 20 PD subjects and 5 control subjects. Support from Golub Capital and a partnership with Cellular Dynamics International generated iPSCs from blood from subjects across cohorts. Gene-revertant controls with mutations edited back to WT were generated by PPMI iPSC recipients and deposited back in the biorepository for community access, as per PPMI policies.
More information on the available iPSC lines can be found here: https://zenodo.org/records/10607589
An instructional template on requesting cell lines can be found here.
Cell Line Inventory
Matched Fibroblasts and iPSCs
Study Arm | Number of Subjects |
|---|---|
| PD | 20 |
| Healthy Controls | 5 |
PBMC-derived iPSCs
Study Arm | Number of Subjects | Number of Subjects with Gene-revertant Controls |
|---|---|---|
| PD Subjects - Total | 72* | |
| GBA | 15 | |
| LRRK2 | 13 | 4 |
| LRRK2 | 2 | |
| SNCA | 3 | 1 |
| Parkin R275W | 2 | |
| Sporadic PD | 37 | |
| Prodromal Subjects - Total | 53** | |
| GBA | 21 | |
| LRRK2 G2019S | 21 | |
| LRRK2 R1441G | 1 | |
| GBA N409S (i.e. N370S) and LRRK2 G2019S*** | 2 | |
| SNCA A53T | 2 | |
| Hyposmia/Generalized Risk | 5 | |
| RBD | 2 | |
| Healthy Control Subjects – Total | 10 | |
| SWEDD Subjects – Total | 1 |
*Note that four subjects with iPSCs available recruited as sporadic PD were subsequently found to carry genetic mutations (GBA N409S, LRRK2 G2019S, and PRKN R275W, respectively). All mutations carriers across all study arms are heterozygous.
**Note that one subject with iPSCs available recruited as sporadic PD was subsequently confirmed as prodromal (GBA N409S).
***Note that two prodromal subjects carry both LRRK2 G2019S and GBA N409S mutations.
Procedure to apply for access for cell lines
review
Submit full proposal
Agree to Use Policy
The first step of the specimen request process requires all investigators to agree to the PPMI Cell Lines Use Agreement and Publication Policy.
Complete single stage application
Prospective applicants are then invited to submit a proposal through the MJFF grants portal. This is a three page Full Proposal that describes the studies proposed, supporting rationale and study impact, preliminary data, and biosamples requested.
- Visit MJFF Grant Portal
- Application template
- Submission and Review Periods
- PPMI Data (LONI) Navigate to the cell line catalogue for assistance in preselecting lines
Application review
Because cell lines are more renewable than other biospecimens collected in PPMI, the evaluation criteria for cell lines requests are quite different. While all other biospecimen resources available from PPMI are reserved for the validation of progression markers with positive data from other human cohorts, PPMI cell lines may be requested for biomarker discovery work. The Review Committee is primarily concerned with whether the investigator/team has expertise in culturing iPSCs and differentiating them into the proposed cell types and will evaluate the experimental design. In addition, investigators interested in conducting research in other neurodegenerative disease areas are also welcome to apply for access to cell lines. Please note that priority may be given to applications requesting cell lines for PD research.
Committee decision
Application will receive one of three decisions:
- Approval: After a positive review by the BRC, applicants will be informed of their selection and be contacted to provide additional information to facilitate the logistics of accessing the cell lines.
- Approval contingent on requested changes: Due to the single-stage nature of the request process for PPMI cell lines, the BRC does not have the ability to ask investigators to revise proposals based on its recommendations. To ensure that no opportunities for PPMI cell lines to be used for potentially interesting and valuable studies are missed, the BRC may approve a proposal contingent upon the accommodation of specific changes to the study suggested by the BRC. In a situation like this, the investigator will be given the opportunity to accept the proposed changes or to decline and forego PPMI cell line access.
- Disapproval: Application was not deemed to be of significant merit and/or the proposed assays were not of sufficient quality to justify use of the PPMI cell lines.
Cell lines released
Prior to sample shipment from the Biorepository Core at Indiana University, the following are required:
- Signed Material Transfer Agreement (MTA)
- Signed MJFF Grant Agreement (even if no associated funding is requested)
- Completion of an introductory call with the PPMI Biorepository Core to review sample selection, box design, and shipping procedures.
Biospecimens shipped to investigator
- Cell lines will be shipped from the PPMI Biorepository Core to the receiving investigator in a blinded fashion (unless previously approved by the review committee). The samples are matched to a unique, deidentified identification number.
Submit results
After analysis is completed, the investigator will submit a Methods Document and Results file to LONI
The applicant should use the provided templates to provide information about the assay(s) and the results to LONI. Results must be submitted for every shipped sample.
LONI provides code to unblind specimens
Upon review of the returned data, LONI will provide a ‘code’ that matches the unique biorepository ID with the PPMI ID so the specimens can then be unblinded and investigators can match their data to the clinical data in the PPMI database.
The submitted results are embargoed for a period of 45 days to allow for quality control by the investigator. After that time, data are available for download from the LONI website for use by the Research Community.
Start the Cell Line Request
Once you've understood the process outlined above, you're ready to start to make a request. The link below will take you to the first step, registering on MJFF's Grant Portal. You can view an instructional template for help in navigating the portal.
Apply nowThe PPMI Biospecimen Review Committee (BRC)
The PPMI Biospecimen Review Committee (BRC) The BRC was established to review applications seeking access to PPMI biospecimens and is convened on a rolling basis. Following evaluation of a Pre-Proposal, the BRC may invite an applicant to submit a Full Proposal or decline the request. All proposals submitted to the PPMI BRC are treated confidentially. Click here to read our Conflict of Interest statement.
Use of cell lines
The use of cell lines falls outside of the realm of the standard PPMI Intellectual Property (IP) policy. Any user of cell lines may generate and claim proprietary IP rights on research tools developed from use of these materials (“Inventor”). IP on compounds developed and/or tested with any research tool created through or from PPMI cell lines in conformity with PPMI IP policy may remain with the Inventor. The full IP policy for cell lines can be found in the Cell Lines Use Agreement.
Fees for use of cell lines for screening and/or commercialization may apply. Please review the Cell Lines Application template for more information.
Resources
PPMI encourages interested investigators to apply for use of PPMI biospecimens to verify potential PD progression biomarkers.
The study’s data and biosample collection, storage and analysis methods have become field-wide standards.
Researchers from academia and industry have been approved to use PPMI samples for biomarker verification studies.