RNA-seq and Hi-C data of a chromothripsis patient's iPS cells

Dataset ID Technology Samples
EGAD00001002242 AB 5500xl Genetic Analyzer,Illumina HiSeq 2500,NextSeq 500 22

Dataset Description

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.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Division of Biomedical Genetics UMC Utrecht
Contact person: DAC DBG
Email: dacdbg [at] umcutrecht [dot] nl
Access information:
More details: EGAC00001000432


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