DAC for study POT1 splice 2724-sc-2724

Dac ID Contact Person Email Access Information
EGAC00001000184 David Adams da1 [at] sanger [dot] ac [dot] uk No additional information is available

This DAC controls 2 datasets:

Dataset ID Description Technology Samples
EGAD00001000786 We are interested in the contribution mutations in the Shelterin complex protein POT1 may have to the development of melanoma. We have identified a patient who carries a splice site mutation in POT1 and as part of our analysis of this gene we aim to sequence the transcriptome of this patient to see how this mutation influences splicing. RNA has been obtained from lymphocytes collected from the patient. Illumina MiSeq 1
EGAD00001001449 PCR products were obtained from each target loci using genomic DNA from human iPS cells. Subsequently, PCR products are pooled and subjected to Illumina library preparation. The library will be sequenced either by HiSeq or MiSeq. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Illumina MiSeq 6