hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

Inherited ichthyoses represent a large heterogeneous group of skin disorders characterised by impaired epidermal barrier function and disturbed cornification. Current knowledge about disease mechanisms has been uncovered mainly through the use mouse models or human organotypic models. However, most lines suffer from severe defects causing neonatal death keratinocytes have very limited proliferation ability in vitro. Therefore, development based on patient derived induced pluripotent stem cells (hiPSCs) is highly relevant. For this purpose, we generated hiPSCs patients with congenital ichthyosis, either non-syndromic autosomal recessive ichthyosis (ARCI) syndrome trichothiodystrophy (TTD). were successfully differentiated into basal keratinocyte-like (hiPSC-bKs), high expression keratins. In presence higher calcium concentrations, terminal differentiation hiPSC-bKs was markers KRT1 IVL expressed. TTD1 showed reduced FLG, SPRR2B lipoxygenase genes. ARCI more defects, downregulation several cornification The application hiPSC technology to demonstrates successful generation vitro mimicking phenotypes, proving valuable system both for further molecular investigations drug patients.