JEB with Mild Clinical Phenotype 2023

Published: 17 March 2023| Version 1 | DOI: 10.17632/wv679v2kw2.1


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.


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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. ( Sample Names: NHK, G548R, ITGB4_.


Universitatsklinikum Freiburg


Dermatology, Genetic Disorder