Project description:Induced pluripotent stem cells (iPSC) were generated from two patients affected by ankyloblepharon ectodermal dysplasia and clefting (AEC), an ectodermal dysplasia caused by mutations in TP63. The two TP63mutations(I537T and R598L) were corrected using Crispr/Cas9- mediated homologous recombination. The resulting conisogenic iPSC pairs were differentiated into keratinocytes and subjected to RNA-sequencing.
2018-01-16 | GSE109185 | GEO
Project description:Exome sequencing in a pedigree with prominent alopecia with mild ectodermal dysplasia
Project description:HLA Class I immunopeptides were affinity purified by W6/32 antibody and analyzed by Orbitrap Fusion Lumos with FAIMS. Personalized database which includes patient-specific somatic mutations obtained from whole exome sequencing (WES) data was used for database search. Identification results were filtered at 1% FDR thresholds by searching against a randomized decoy database using Proteome Discoverer 2.4 (Sequest HT).
Project description:HLA Class I immunopeptides were affinity purified by W6/32 antibody and analyzed by Orbitrap Fusion Lumos with FAIMS. Personalized database which includes patient-specific somatic mutations obtained from whole exome sequencing (WES) data was used for database search. Identification results were filtered at 1% FDR thresholds by searching against a randomized decoy database using Proteome Discoverer 2.4 (Sequest HT).
Project description:Whole-exome sequencing was performed on DNA samples extracted from eight patient-derived melanoma cell lines grown in vitro in serum-free EGF/bFGF-containing medium. The aim of the experiment was to search for genetic alterations responsible for phenotypic diversity of melanoma cell lines reported at the level of cell morphology, activity of signaling pathways essential for melanoma development and progression, and response to drugs.