Huntington's disease iPSC models-using human patient cells to understand the pathology caused by expanded CAG repeats.

ABSTRACT: A major advance in the study of Huntington's disease (HD) has been the development of human disease models employing induced pluripotent stem cells (iPSCs) derived from patients with HD. Because iPSCs provide an unlimited source of cells and can be obtained from large numbers of HD patients, they are a uniquely valuable tool for investigating disease mechanisms and for discovering potential disease-modifying therapeutics. Here, we summarize some of the important findings in HD pathophysiology that have emerged from studies of patient-derived iPSC lines. Because they retain the genome and actual disease mutations of the patient, they provide a cell source to investigate genetic contributions to the disease. iPSCs provide advantages over other disease models. While iPSC-based technology eras

SUBMITTER: Kaye J 

PROVIDER: S-EPMC9264339 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature