JEB with Mild Clinical Phenotype 2023
To elucidate the pathogenity of a novel ITGB4 variant, we performed the gene expression study by RNA sequencing. mRNA from three cell lines ( normal human keratinocytes, keratinocytes from the patient with the novel ITGB4 missense mutation, keratinocytes from the patient with ITGB4 nonsense mutation) were obtained and subjected to the RNA sequencing analysis.
Steps to reproduce
RNA extracted from cells was sequenced by Illumina technology by Novogene. At Novogene, the state-of-the-art Illumina NovaSeq platforms are used for a paired-end 150 bp sequencing strategy (short-reads) to sequence the cDNA libraries. With strong sequencing capacity and rich experience, Novogene offers multiple services to meet various needs, including the access to not only eukaryotic mRNA sequencing (mRNA-seq) services, but also the studies on prokaryotic transcripts, non-coding RNAs, full-length isoforms (long-reads), whole transcriptomes, and meta-transcriptomes. (https://en.novogene.com/services/research-services/transcriptome-sequencing/mrna-sequencing-mrna-seq/). Sample Names: NHK, G548R, ITGB4_.