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Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24

Archive ouverte | Pachis, Spyridon | CCSD

International audience. Fibroblasts from two patients carrying a distinct heterozygous mutation in the KLHL24 gene (c.1 A>G and c.2T>C) were reprogrammed to obtain hiPSC lines. Non-integrating Sendai virus and CRISP...

Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids. Les Langerhanoïdes , des organoïdes d’îlots pancréatiques

Archive ouverte | Ramovs, Veronika | CCSD

Human induced pluripotent stem cell (hiPSC)-derived hair-bearing skin organoids offer exciting new possibilities for modeling diseases like epidermolysis bullosa (EB). These inherited diseases affect 1 in 30,000 people worldwide a...

Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A

Archive ouverte | Widyastuti, Halida | CCSD

International audience

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