September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
November 2022 in “Journal of Investigative Dermatology” This study demonstrated that hiPSC-derived hair-bearing skin organoids lacked sufficient type VII collagen at the epidermal-dermal junction, indicating a need for further maturation to model certain forms of epidermolysis bullosa effectively.
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May 2022 in “Stem cell reports” This study reported that human induced pluripotent stem cell-derived skin organoids, used to model epidermolysis bullosa, have an epidermal-dermal junction largely lacking type VII collagen, which is important for skin structure.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
