RNA-seq and Hi-C data of a chromothripsis patient's iPS cells
This dataset contains RNA-seq and Hi-C data files of induced pluripotent stem (iPS) cells and iPS cell-derived neural progenitors (NPCs) derived from a germline chromothripsis patient and both parents. iPS cells of the patient (cell lines 14 and 15), the father (lines 23 (with two replicates) and 32) and mother (line 30) were differentiated to NPCs and RNA was collected on day 0, day 7 and day 10 of differentiation. In addition, Hi-C data for two iPS cell-derived NPC lines from the patient (14 and 15) and two lines from the father (23 and 32) was generated.
- 04/01/2017
- 22 samples
- DAC: EGAC00001000432
- Technologies: AB 5500xl Genetic Analyzer, Illumina HiSeq 2500, NextSeq 500
- NPUNCU DUO:0000018 (version: 2021-02-23)not for profit, non commercial use onlyThis data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
- GRU DUO:0000042 (version: 2021-02-23)general research useThis data use permission indicates that use is allowed for general research use for any research purpose.
Data access policy Department of Biomedical Genetics of UMC Utrecht
The Data Access Committee of the Department of Biomedical Genetics of UMC Utrecht (DAC-DGB-UMCU) governs data access to genomic datasets and accompanying metadata via a two-step access request procedure. Access to data will only be granted to qualified users for appropriate use. Step 1: contact the DAC-DBG-UMCU at DACDBG@umcutrecht.nl, providing a brief summary of your research proposal and the requested datasets. Your proposal will be reviewed based on the necessity of the requested dataset to answer the specific research question. Step 2: The DAC will request additional documentation to complete your application. The DAC-DBG-UMCU will decide if data access is permitted by evaluating the feasibility of the project, the scientific profile of the applicant(s), and whether the relevant ethical approvals justify the proposed research. Only unanimous voting results in acceptation of the request.
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00001227438 | bam | 4.3 GB | ||
| EGAF00001227439 | bam | 4.3 GB | ||
| EGAF00001227440 | bam | 4.5 GB | ||
| EGAF00001227441 | bam | 3.7 GB | ||
| EGAF00001227442 | bam | 4.4 GB | ||
| EGAF00001227443 | bam | 3.9 GB | ||
| EGAF00001227444 | bam | 5.0 GB | ||
| EGAF00001227445 | bam | 2.2 GB | ||
| EGAF00001227446 | bam | 2.1 GB | ||
| EGAF00001227447 | bam | 2.1 GB | ||
| EGAF00001227448 | bam | 2.2 GB | ||
| EGAF00001227449 | bam | 5.6 GB | ||
| EGAF00001227450 | bam | 3.6 GB | ||
| EGAF00001227451 | bam | 4.4 GB | ||
| EGAF00001227452 | bam | 2.3 GB | ||
| EGAF00001227453 | bam | 2.3 GB | ||
| EGAF00001227454 | bam | 2.3 GB | ||
| EGAF00001227455 | bam | 12.2 GB | ||
| EGAF00001227456 | bam | 9.7 GB | ||
| EGAF00001227457 | bam | 13.5 GB | ||
| EGAF00001227458 | bam | 13.6 GB | ||
| EGAF00001427089 | fastq.gz | 5.9 GB | ||
| EGAF00001427090 | fastq.gz | 5.4 GB | ||
| 23 Files (119.5 GB) | ||||