Study

HipSci HumanExome BeadChip analysis - Hereditary Cerebellar Ataxias

Study ID Alternative Stable ID Type
EGAS00001002005 Other

Study Description

The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Hereditary Cerebellar Ataxias.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00010001344
HipSci - Hereditary Cerebellar Ataxias - Genotyping Array - July 2017
Illumina 1

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