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

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Nina Kraskovskaya^1,a*, Anna Koltsova¹, Polina Parfenova¹, Alla Shatrova¹, Natalya Yartseva¹, Vladimir Nazarov², Ekaterina Devyatkina², Mikhail Khotin¹, Natalia Mikhailova¹

¹Institute of Cytology, Russian Academy of Science, 194064 St. Petersburg, Russia

²Pavlov First St. Petersburg State Medical University, 197022 St. Petersburg, Russia

^* To whom correspondence should be addressed.

Received: November 22, 2023; Revised: May 21, 2024; Accepted: June 13, 2024

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Huntington’s disease (HD) is an incurable hereditary disease caused by expansion of the CAG repeats in the HTT gene encoding the mutant huntingtin protein (mHTT). Despite numerous studies in cellular and animal models, the mechanisms underlying the biological role of mHTT and its toxicity to striatal neurons have not yet been established and no effective therapy for HD patients has been developed so far. We produced and characterized a new line of dermal fibroblasts (HDDF, Huntington’s disease dermal fibroblasts) from a patient with a confirmed HD diagnosis. We also studied the growth characteristics of HDDF cells, stained them for canonical markers, karyotyped these cells, and investigated their phenotype. HDDF cells was successfully reprogrammed into induced striatal neurons via transdifferentiation. The new fibroblast line can be used as a cell model to study the biological role of mHTT and manifestations of HD pathogenesis in both fibroblasts and induced neuronal cells obtained from them by reprogramming techniques.

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KEY WORDS: skin fibroblasts, Huntington’s disease, CAG repeats, huntingtin, polyglutamine, transdifferentiation

DOI: 10.1134/S000629792407006X

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