Modeling of Pigmentation Disorders Associated with MITF Mutation in Waardenburg Syndrome Revealed an Impaired Melanogenesis Pathway in iPS-Derived Melanocytes

Scientists used induced pluripotent stem cells derived from a Waardenburg Syndrome (WS) patient carrying a heterozygous mutation in the MITF gene c.626A>T, and differentiated toward melanocyte lineage, which is the most affected cell type involved in WS.