Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene VHL. We generated human iPSC lines from primary dermal fibroblasts of three VHL syndrome patients carrying distinct VHL germ line mutations (c.194C>G, c.194C>T and nt440delTCT, respectively). Characterization of the iPSC lines confirmed expression of pluripotency markers, trilineage differentiation potential and absence of exogenous vector expression. The three hiPSC lines were genetically stable and retained the VHL mutation of each donor. These iPSC lines, the first derived from VHL syndrome patients, offer a useful resource to study disease pathophysiology and for anti-cancer drug development.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2019.101474 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders.
Front Neurosci
January 2025
Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Neurodevelopmental disorders (NDDs) affect 4.7% of the global population and are associated with delays in brain development and a spectrum of impairments that can lead to lifelong disability and even mortality. Identification of biomarkers for accurate diagnosis and medications for effective treatment are lacking, in part due to the historical use of preclinical model systems that do not translate well to the clinic for neurological disorders, such as rodents and heterologous cell lines.
View Article and Find Full Text PDFIntercellular mRNA transfer alters the human pluripotent stem cell state.
Proc Natl Acad Sci U S A
January 2025
Human Biology Research Unit, Institute of Integrated Research, Institute of Science Tokyo, Bunkyo-ku, Tokyo 113-8510, Japan.
Intercellular transmission of messenger RNA (mRNA) is being explored in mammalian species using immortal cell lines. Here, we uncover an intercellular mRNA transfer phenomenon that allows for the adaptation and reprogramming of human primed pluripotent stem cells (hPSCs). This process is induced by the direct cell contact-mediated coculture with mouse embryonic stem cells under the condition impermissible for primed hPSC culture.
View Article and Find Full Text PDFModeling of auditory neuropathy spectrum disorders associated with the variant reveals impaired gap junction function of iPSC-derived glia-like support cells.
Front Mol Neurosci
January 2025
Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Auditory neuropathy spectrum disorder (ANSD) is an auditory dysfunction disorder characterized by impaired speech comprehension. Its etiology is complex and can be broadly categorized into genetic and non-genetic factors. mutation is identified as a causative factor in ANSD.
View Article and Find Full Text PDFCalciumZero: a toolbox for fluorescence calcium imaging on iPSC derived brain organoids.
Brain Inform
January 2025
Department of Psychiatry, Columbia University, 1051 Riverside Drive, New York, NY, 10032, USA.
Calcium plays an important role in regulating various neuronal activities in human brains. Investigating the dynamics of the calcium level in neurons is essential not just for understanding the pathophysiology of neuropsychiatric disorders but also as a quantitative gauge to evaluate the influence of drugs on neuron activities. Accessing human brain tissue to study neuron activities has historically been challenging due to ethical concerns.
View Article and Find Full Text PDFUnbiased identification of cell identity in dense mixed neural cultures.
Elife
January 2025
Laboratory of Cell Biology and Histology, University of Antwerp, Antwerp, Belgium.
Induced pluripotent stem cell (iPSC) technology is revolutionizing cell biology. However, the variability between individual iPSC lines and the lack of efficient technology to comprehensively characterize iPSC-derived cell types hinder its adoption in routine preclinical screening settings. To facilitate the validation of iPSC-derived cell culture composition, we have implemented an imaging assay based on cell painting and convolutional neural networks to recognize cell types in dense and mixed cultures with high fidelity.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!