Trisomy 21 (T21), or Down Syndrome (DS), is a common chromosomal disorder resulting from a third copy of chromosome 21 (HSA21). Transient myeloproliferative disorder (TMD) is a pre-leukemic condition that occurs only in neonates with DS and is characterized by a mutation in the transcription factor GATA1 that results in a truncated protein (GATA1s). We generated a pair of isogenic T21 lines derived from a patient with TMD that differ only in GATA1 status. The iPSC lines were characterized for pluripotency, differentiation potential, and genomic stability. These lines are a valuable resource for studying T21 hematopoietic diseases.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576909 | PMC |
| http://dx.doi.org/10.1016/j.scr.2023.103098 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Frequently arising ESX-1-associated phase variants influence fitness in the presence of host and antibiotic pressures.
mBio
January 2025
Department of Microbiology, UMass Chan Medical School, Worcester, Massachusetts, USA.
Unlabelled: (Mtb) exhibits an impressive ability to adapt to rapidly changing environments, despite its genome's apparent stability. Recently, phase variation through indel formation in homopolymeric tracts (HT) has emerged as a potentially important mechanism promoting adaptation in Mtb. This study examines the impact of common phase variants associated with the ESX-1 type VII secretion system, focusing on a highly variable HT upstream of the ESX-1 regulatory factor, .
View Article and Find Full Text PDFRapid iPSC-derived neuromuscular junction model uncovers motor neuron dominance in amyotrophic lateral sclerosis cytopathy.
Cell Death Discov
January 2025
Bioinnovation Center, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
The neuromuscular junction (NMJ) is essential for transmitting signals from motor neurons (MNs) to skeletal muscles (SKMs), and its dysfunction can lead to severe motor disorders. However, our understanding of the NMJ is limited by the absence of accurate human models. Although human induced pluripotent stem cell (iPSC)-derived models have advanced NMJ research, their application is constrained by challenges such as limited differentiation efficiency, lengthy generation times, and cryopreservation difficulties.
View Article and Find Full Text PDFProteins Implicated in the Reduced Virulence of and Mutants in Osteomyelitis.
Microorganisms
January 2025
Department of Microbiology and Immunology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Using a murine osteomyelitis model, we recently demonstrated that and mutants generated in the USA300 strain LAC are attenuated to a greater extent than an isogenic mutant and that this can be attributed to a significant extent to the increased production of extracellular proteases in both mutants. Based on this, we used a mass-based proteomics approach to compare the proteomes of LAC, its isogenic , , and mutants, and isogenic derivatives of all four of these strains unable to produce the extracellular proteases aureolysin, SspA, SspB, ScpA, or SplA-F. This allowed us to identify proteins that were present in reduced amounts in , and / mutants owing to the increased production of extracellular proteases.
View Article and Find Full Text PDFA Novel Bacteriophage with the Potential to Inhibit -Induced Proliferation of Colorectal Cancer Cells.
Antibiotics (Basel)
January 2025
Department of Laboratory Medicine and Biotechnology, Tzu Chi University, Hualien 970374, Taiwan.
Background: Increasing evidence shows that () largely affects colorectal cancer (CRC) growth and progression; therefore, the inhibition of intratumoral may be one realistic approach to combat CRC. Although antibiotics are helpful in eliminating bacteria, the major problem remains the rise of potential antibiotic-resistant strains and antibiotic-associated adverse effects. Currently, bacteriophage therapy has gained interest because of its high selectivity to bacterial hosts and may become a realistic approach in treating bacteria-associated cancers.
View Article and Find Full Text PDFDerivation and Characterization of Isogenic Mutant and Control Human Pluripotent Stem Cell Lines.
Cells
January 2025
Jules Stein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Dominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the gene, which encodes a dynamin-related GTPase located to the mitochondrion. OPA1 has been shown to regulate mitochondrial dynamics and promote fusion.
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!