Subject collection: Stem Cells
- Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency
Summary: This study deals with pathomechanisms underlying riboflavin transporter deficiency, a rare recessively inherited early-onset neurodegenerative condition. Using patient-derived iPSCs, we report on cytoskeletal abnormalities, which are reverted by combined riboflavin/antioxidant treatment.
- Mutant non-coding RNA resource in mouse embryonic stem cells
Summary: Analysis of a large library of mouse embryonic stem cell lines with gene trap insertions revealed mutations in 2202 unique non-coding RNA genes, which will significantly contribute to the functional annotation of non-coding RNA genes.
- Haematopoietic ageing through the lens of single-cell technologies
Summary: We discuss the cellular changes that occur during haematopoietic ageing at the different molecular levels, and provide an overview of the benefits of investigating those changes with single-cell precision.
- Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease
Summary: This Review highlights the physiological relevance of pulmonary neuroendocrine cells, rare airway epithelial cells that form intrapulmonary sensory organs, abnormalities of which are associated with several pulmonary disorders, such as asthma and lung cancer.
- Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy
Summary: This study examines the consequential effects of exposure to diseased exosomes in a cell model of Duchenne muscular dystrophy (DMD). The findings support a detrimental role for long-term DMD cardiac exosome exposure.
- CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.
- Silencing of CCR4-NOT complex subunits affects heart structure and function
Summary: Genome-wide association studies combined with in vitro human cardiac cell assays and a model organism suitable for heart studies in vivo connect CNOT1, CNOT7 and overall the CCR4-NOT complex to human heart disease and morbidity.
- Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells
Summary: Here, we generated a GNRH1-reporter cell line in hPSCs and investigated transcriptomes of GNRH1-expressing neurons and their progenitors, potentially leading to validation of new genes related to GnRH neuron function.
- Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility
Summary: This Review discusses approaches to deal with and reduce cellular heterogeneity in induced pluripotent stem cell-based studies, enabling experiments to be reproducible and meaningful.
- Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Summary: The authors describe a neuronal model to investigate how mutations in the copper transporter ATP7A cause axonal degeneration in the peripheral nervous system.