OSCR

HDDF2-A Novel Patient-Derived Fibroblast Line from Huntington's Disease with Prominent Cellular Senescence and polyQ Pathology.

Overview

Authors: Polina Parfenova1, Nina Kraskovskaya1, Anna Koltsova1, Alla Shatrova1, Natalia Yartseva1, Natalia Mikhailova1
ORCID iDs: Anna Koltsova, Alla Shatrova, Natalia Mikhailova
  1. Institute of Cytology Russian Academy of Science, 194064 Saint-Petersburg, Russia; (P.P.); (A.K.); (A.S.); (N.Y.); (N.M.)
Institutions: Institute of Cytology (Russia)
Journal: Biomedicines, volume 14, issue 7, article 1484
Dates: received 31 March 2026; accepted 20 June 2026; published online 30 June 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.3390/biomedicines14071484 · PMID 42511959 · PMCID PMC13405978 · OpenAlex W7166694549
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: human (organism), other condition (population)
Methods: fMRI & imaging
Keywords: fibroblasts, cell line, Huntington’s disease, huntingtin, polyQ, direct reprogramming
Topic: Genetic Neurodegenerative Diseases (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex
Funding: Ministry of Science and Higher Education of the Russian Federation (075-15-2025-482)
Citations: not cited yet (Europe PMC); 59 references in the paper

Abstract

Background/Objectives: Patient-derived cell lines retaining donor-specific age-related and genomic features are essential for modeling late-onset neurodegenerative disorders like Huntington’s disease (HD). This study aims to establish and comprehensively characterize HDDF2, a novel dermal fibroblast line from an HD patient, to provide a relevant cellular model. Methods: Dermal fibroblasts were isolated and cultured from a 44-year-old male HD patient carrying 46 CAG repeats in the HTT gene. Cells were evaluated for senescence markers (p16, lamin B1, SA-β-Gal activity, proliferation rates) and polyglutamine (polyQ) aggregation. Direct reprogramming protocols were applied to convert these fibroblasts into induced neurons. Results: HDDF2 fibroblasts exhibited a pronounced senescence-associated phenotype, evidenced by increased p16 expression, reduced lamin B1 levels, elevated SA-β-Gal activity, and decreased proliferation. Notably, polyQ deposition was preferentially detected within the senescent subpopulation, displaying distinct localization patterns differentiating senescent from proliferating cells. Despite this, HDDF2 cells retained their capacity for direct reprogramming and were successfully converted into induced neurons. Conclusions: HDDF2 represents a well-characterized, patient-specific cellular model for HD. The observed co-occurrence of polyQ deposition and cellular senescence, combined with successful neuronal conversion, establishes this line as a valuable resource for investigating the relationship between cellular aging and HD pathogenesis.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

The paper links to its data, not to its authors' code: see the Data section.

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Data

Datasets cited

Data Availability Statement

The raw quantitative data supporting the results of this study are openly available in Zenodo at https://doi.org/10.5281/zenodo.20518328. Further inquiries can be directed to the corresponding author(s).

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 6 authors, 6 keywords, 1 funder, 57 references.

Cite

This paper

Parfenova, P., Kraskovskaya, N., Koltsova, A., Shatrova, A., Yartseva, N., & Mikhailova, N. (2026). HDDF2-A Novel Patient-Derived Fibroblast Line from Huntington's Disease with Prominent Cellular Senescence and polyQ Pathology. Biomedicines, 14(7), 1484. https://doi.org/10.3390/biomedicines14071484

BibTeX

@article{parfenova2026hddf2,
author = {Parfenova, Polina and Kraskovskaya, Nina and Koltsova, Anna and Shatrova, Alla and Yartseva, Natalia and Mikhailova, Natalia},
title = {{HDDF2-A Novel Patient-Derived Fibroblast Line from Huntington's Disease with Prominent Cellular Senescence and polyQ Pathology}},
journal = {Biomedicines},
year = {2026},
month = jun,
volume = {14},
number = {7},
pages = {1484},
publisher = {Multidisciplinary Digital Publishing Institute (MDPI)},
issn = {2227-9059},
doi = {10.3390/biomedicines14071484},
url = {https://doi.org/10.3390/biomedicines14071484},
pmid = {42511959},
pmcid = {PMC13405978}
}

RIS

TY - JOUR
AU - Parfenova, Polina
AU - Kraskovskaya, Nina
AU - Koltsova, Anna
AU - Shatrova, Alla
AU - Yartseva, Natalia
AU - Mikhailova, Natalia
TI - HDDF2-A Novel Patient-Derived Fibroblast Line from Huntington's Disease with Prominent Cellular Senescence and polyQ Pathology
T2 - Biomedicines
J2 - Biomedicines
PY - 2026
DA - 2026/06/30
VL - 14
IS - 7
SP - 1484
SN - 2227-9059
PB - Multidisciplinary Digital Publishing Institute (MDPI)
DO - 10.3390/biomedicines14071484
UR - https://doi.org/10.3390/biomedicines14071484
LA - en
ER -

CSL-JSON

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"language": "en",
"issued": {
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