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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.

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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, 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
EGAS00001001896 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)