Transcriptomics

Dataset Information

7

Transcription profiling by high throughput sequencing of MPN1 deficient human cells to investigate the the effect of MPN1 mutations on pre-mRNA transcripts maturation in patients with Clericuzio-type poikiloderma with neutropenia


ABSTRACT: Clericuzio-type poikiloderma with neutropenia (PN, Mendelian Inheritance in Man (MIM) accession 604173) is a rare genodermatosis associated to mutations in the MPN1 gene. The aim of this experiment was to investigate the the effect of MPN1 mutations on pre-mRNA transcripts maturation. We compared the transcriptome obtained from 2 lymphoblastoid immortal cell lines from PN patients with the one of a lymphoblastoid cell line established from the healthy brother of one of the patient. The trasncriptome was generated by single-end RNA-Seq.

INSTRUMENT(S): Illumina HiSeq 2000

ORGANISM(S): Homo Sapiens

DISEASE(S): Clericuzio-type Poikiloderma With Neutropenia,Normal

SUBMITTER: Edoardo Missiaglia  

PROVIDER: E-MTAB-1197 | ArrayExpress | 2012-07-27

SECONDARY ACCESSION(S): ERP001574

REPOSITORIES: ArrayExpress, ENA

Dataset's files

Source:
Action DRS
E-MTAB-1197.README.txt Txt
E-MTAB-1197.idf.txt Idf
E-MTAB-1197.sdrf.txt Txt
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