Transcription profiling by high throughput sequencing of MPN1 deficient human cells

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.

ORGANISM(S): Homo sapiens

DISEASE(S): normal

SUBMITTER: Edoardo Missiaglia 

PROVIDER: E-MTAB-1197 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress