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The invention relates to a plasmid that enables gene knowndown (via CRISPRi) in human induced pluripotent stem cells (iPSCs), including derived cell types such as neurons. The plasmid contains homology arms to direct insertion of a cassette into the CLYBL safe-harbor locus in the human genome. The cassette expresses CRISPRi machinery using a CAG promoter. The CRISPRi machinery consists of double degron-tagged dCas9-BFP-KRAB. Addition of the small molecule trimethoprim to cell culture media stabilizes the degron and thereby increases dCas9-BFPKRAB levels, enabling CRISPRi activity.

This invention relates to the derivation of two stable cell lines, SVG5F4 and SVG1OB1, which can be used to study JC-virus infection. SVG cells are a heterogeneous population of immortalized human fetal glial cells, which express SV40 large T antigen. They are capable of supporting JC virus infection; however, the culture is mixed and changes over time. The two SV40-derived cell lines described here are stable over many passages.

The technology relates to the identification and validation of eight biomarkers for active central nervous system (CNS) intrathecal inflammation. The management of neuroimmunological diseases is severely hindered by an inability to reliably measure intrathecal inflammation. Current laboratory tests, that were developed over 40 years ago, do not capture low to moderate levels of CNS inflammation and provide limited information about its phenotype.

This technology includes the creation and use of a polyclonal antibody for Neuroligin-4, NLGN4, that was created by injecting a peptide surrounding the pT707 phosphorylation site into rabbits and affinity purifying the resulting serum. Neuroligin-4 is a member of the neuroligin family of cell adhesion proteins. This family has been shown to play a role in the maturation and function of the neuronal synapse and has been implicated in patients with autism and intellectual disability.

This invention includes the identification of a new mutation in the collagen type VI (COL6A1) gene, including a method for diagnosing and treating patients with this mutation. Collagen type VI-related dystrophies (COL6-RD) are devastating neuromuscular disorders that manifest with progressive generalized muscle weakness, contractures, and respiratory failure. Currently, no cure exists for COL6-RD.

This technology includes the development and use of the VA-17 antibody that detects both amidated and extended forms of Oxytocin in radioimmunoassay. This antibody can be used for in vitro work, including RIA assays, to detect both forms of Oxytocin: amidated and extended.

This technology includes the generation and use of novel rabbit polyclonal antibodies against a GST-tagged portion of the human protein mitofusin 1 (amino acids 667-741).

This technology includes the design and implementation for 1H-nuclear magnetic resonance imaging (MRI) that allows single transmit hardware to be "transformed" for another nucleus excitation to perform multi-nuclear MR. A radiofrequency (RF) optically controlled switch-mode amplifier prototype is tuned for excitation of two nuclei. The amplifier received the nuclei carrier signals optically through a single fiber.

The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early mortality because the GBA enzyme plays an important role in lysosomal storage.

Enteric viruses like norovirus, rotavirus and astrovirus mainly transmit through fecal-oral route by ingestion of contaminated food and water and productively replicate in the intestines. Recently, researchers at National Heart, Lung, and Blood Institute (NHLBI) and National Institute of Dental and Craniofacial Research (NIDCR) identified a second route of enteric viral transmission by demonstrating that these viruses also productively and persistently infect salivary glands, reaching titers comparable to that in intestines.