Dermal Fibroblast Lines from a Patient with Huntington’s Disease as a Promising Model for Studying the Pathogenesis of the Disease: Production and Characterization

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Huntington’s disease (HD) is an inherited, incurable disease caused by a mutation and expansion of CAG repeats in the HTT gene encoding the huntingtin protein (mHTT). Despite numerous studies conducted on various cellular and animal models, specific mechanisms explaining the biological role of mHTT and its toxicity to striatal neurons have not yet been established, and effective therapy for patients has not been developed. We obtained and characterized a new line of dermal fibroblasts HDDF (Huntington Disease Dermal Fibroblasts) from a patient with a confirmed diagnosis of HD. The growth characteristics of the HDDF line, staining for canonical markers, karyotyping and cell phenotyping were performed. Direct differentiation of fibroblasts from the resulting line into induced striatal neurons was carried out. The new fibroblast line can be used as a cell model to study the biological role of mHTT and various manifestations of HD pathogenesis both in fibroblasts themselves and in induced neuronal cells obtained using reprogramming methods.