Transcriptional profiles of Kleefstra syndrome (EHMT1 and EHMT2) and healthy iPSCs

Data Access Policy Project: “EHMT2 alterations cause a Kleefstra-like syndrome” DAC: SpainUDP Data Access Committee This policy defines the conditions under which access is granted to controlled human sequencing data deposited in the European Genome-phenome Archive (EGA). The aim is to promote responsible data sharing while protecting the privacy of individuals affected by rare diseases. The dataset consists of raw RNA sequencing (RNA-seq) data generated from human cell lines derived from patients diagnosed with rare diseases. Although the data originate from in vitro cell lines, they contain human genetic information and may carry a risk of re-identification, particularly given the rarity of the conditions represented. Therefore, access to the data is managed under controlled access. Access to the data is granted only to qualified researchers for bona fide research purposes, subject to approval by the SpainUDP Data Access Committee (DAC) and acceptance of the applicable Data Access Agreement (DAA). Data Access Agreement (DAA) These terms and conditions govern access to the managed access datasets (detailed in Appendix I) for which the Recipient Investigator has requested access. By accessing the Data, the Recipient Investigator agrees to be bound by these terms and conditions. Definitions Authorized Personnel: The individuals at the Recipient Investigator’s institution to whom the SpainUDP Data Access Committee grants access to the Data. This includes the Recipient Investigator and the individuals listed in Appendix I. Data: The managed access datasets to which the Recipient Investigator has requested access. Data Producer: Dr. María J. Barrero. Project: The research project for which the Recipient Investigator has requested access to the Data. A description of the Project is set out in Appendix I. Publications: Includes, without limitation, articles published in print or electronic journals, reviews, books, posters, and other written or verbal presentations of research. Research Participant: An individual whose data form part of the Data. Research Purposes: Research seeking to advance the understanding of genetics and genomics, including the study of disease mechanisms and treatment of disorders. Recipient Investigator: The principal investigator requesting access to the Data and responsible for the Project described in Appendix I. Parties: The Data Producer and the Recipient Investigator. Terms and Conditions The Parties agree as follows: 1. Permitted Use The Recipient Investigator agrees to use the Data solely for the purposes of the Project (described in Appendix I) and only for Research Purposes. The Data must not be used for commercial purposes unless explicitly permitted in writing by the DAC. 2. Confidentiality and non-identification The Recipient Investigator agrees to preserve the confidentiality of the Data and not to use or attempt to use the Data to compromise the confidentiality of Research Participants. The Recipient Investigator must not attempt to identify or re-identify any individual Research Participant. 3. Data Sharing Restrictions The Recipient Investigator agrees not to transfer or disclose the Data, in whole or in part, or any material derived from the Data, except to the Authorized Personnel listed in Appendix I. The Recipient Investigator shall ensure that all Authorized Personnel comply with the terms of this Agreement. 4. Data Security The Recipient Investigator agrees to store and process the Data in secure computing environments, restrict access to Authorized Personnel only, and implement appropriate technical and organizational measures to protect data confidentiality. 5. Publications and Acknowledgment In the event of Publications derived from the use of the Data, the Recipient Investigator agrees to acknowledge the data producer, cite the relevant EGA accession number(s), and ensure that no information or analysis that could lead to Research Participant identification is included. 6. Publication Moratorium The Recipient Investigator agrees to comply with the following publication policy: submission of research manuscripts for publication shall not occur until six (6) months after the Data were first made available through the relevant hosting database, unless the Data Producer has provided prior written consent for earlier submission. 7. Intellectual Property The Recipient Investigator agrees not to make intellectual property claims on the Data and not to seek intellectual property protection in a manner that would restrict or block access to, or use of, the Data or any conclusions drawn directly from the Data. 8. Data Retention and Destruction The Recipient Investigator agrees to destroy or discard the Data once they are no longer required for the Project, unless retention is required by applicable legal or institutional obligations. 9. Term and Termination This Agreement shall become effective as of the Effective Date and shall remain in force until completion of the Research. Either Party may terminate this Agreement with or without cause upon thirty (30) days’ written notice to the other Party. Upon termination or expiration of this Agreement, the Recipient Investigator shall destroy all Data received under this Agreement. 10. Disclaimer and Limitation of Liability The Data are provided without warranty of any kind, whether express or implied, including but not limited to warranties of accuracy, completeness, or fitness for a particular purpose. The Data Producer and affiliated institutions shall not be liable for any use of the Data, including any analyses, interpretations, or conclusions derived therefrom, nor for any loss or damage arising from the use of, or inability to access, the Data. Recipient Investigator I confirm that I have read and understood this Agreement. Signature: Name: Title: Institution: Institutional e-mail address: ORCID: Date: Data producer Signature: Name: Maria J Barrero Title: Principal Investigator Institution: Instituto de Salud Carlos III Date: APPENDIX I – PROJECT DETAILS (to be completed by the Recipient Investigator) Details of dataset requested i.e., EGA Study and Dataset Accession Number Brief abstract of the Project in which the Data will be used (500 words max) Authorized personnel within the Recipient Investigator’s Institution Name Email Job Title Supervisor*