CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
type: CreativeWork
description: Since the discovery of stem cell in 1961, the knowledge and applications of pluripotent stem cells have expanded significantly, opening remarkable opportunities for fundamental discoveries and biomedical advancements, such as regenerative medicine, disease modelling, and drug screening. A pivotal milestone in this field was the generation of induced pluripotent stem cells (iPSCs) by Yamanaka and Takahashi in 2006, through the use of four reprogramming factors (Oct4, Sox2, Klf4 and c-Myc). This finding enabled the generation of iPSCs from adult patient-specific cells, overcoming numerous ethical concerns by the use of embryonic stem cells (ESCs), while maintaining key advantages of ESCs (e.g. indefinite self-renewal and the ability to differentiate into various cell types). Thanks to these properties, iPSCs give a model that resemble better the human anatomy and complexity compared to animal models across various applications. The coupling of iPSCs with advanced gene-editing technologies, such as CRISPR/Cas9, represents one of the most promising strategies for gene correction in a wide range of genetic diseases. However, some genetic defects, especially those involving genomic structural abnormalities (e.g. large deletions, inversions, aneuploidies, or complex rearrangements) cannot be corrected using conventional gene therapy methods. A group of these disorders falls within the dystrophinopathies. Dystrophinopathies are X-linked disorders caused by mutations in the DMD gene (Xp21.2), which encodes the dystrophin protein. The dystrophin or DMD gene is one of the largest protein-coding genes in the human genome (79 exons) and gives rise to various isoforms. The full-length dystrophin protein (427 kDa) is expressed primarily in skeletal and cardiac muscles, where is part of the dystrophin-associated protein complex (DAPC) or dystrophin glycoprotein complex (DGC) and plays a structural role by linking the cytoskeleton to the extracellular matrix (ECM) to maintain the sa…
abstract: Since the discovery of stem cell in 1961, the knowledge and applications of pluripotent stem cells have expanded significantly, opening remarkable opportunities for fundamental discoveries and biomedical advancements, such as regenerative medicine, disease modelling, and drug screening. A pivotal milestone in this field was the generation of induced pluripotent stem cells (iPSCs) by Yamanaka and Takahashi in 2006, through the use of four reprogramming factors (Oct4, Sox2, Klf4 and c-Myc). This finding enabled the generation of iPSCs from adult patient-specific cells, overcoming numerous ethical concerns by the use of embryonic stem cells (ESCs), while maintaining key advantages of ESCs (e.g. indefinite self-renewal and the ability to differentiate into various cell types). Thanks to these properties, iPSCs give a model that resemble better the human anatomy and complexity compared to animal models across various applications. The coupling of iPSCs with advanced gene-editing technologies, such as CRISPR/Cas9, represents one of the most promising strategies for gene correction in a wide range of genetic diseases. However, some genetic defects, especially those involving genomic structural abnormalities (e.g. large deletions, inversions, aneuploidies, or complex rearrangements) cannot be corrected using conventional gene therapy methods. A group of these disorders falls within the dystrophinopathies. Dystrophinopathies are X-linked disorders caused by mutations in the DMD gene (Xp21.2), which encodes the dystrophin protein. The dystrophin or DMD gene is one of the largest protein-coding genes in the human genome (79 exons) and gives rise to various isoforms. The full-length dystrophin protein (427 kDa) is expressed primarily in skeletal and cardiac muscles, where is part of the dystrophin-associated protein complex (DAPC) or dystrophin glycoprotein complex (DGC) and plays a structural role by linking the cytoskeleton to the extracellular matrix (ECM) to maintain the sa…
author: LA GRUA, ANGELA
language: eng
keywords: Settore BIOS-10/A - Biologia cellulare e applicata
date published: 2026-01-30
date modified: 2026-07-27T20:18:51Z
provider: Università degli Studi di Milano
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Università degli Studi di Milano

PropertyValue
property ID: Handle
value: https://hdl.handle.net/2434/1205213