30 results about "Genomic Stability" patented technology

The invention provides an miRNA marker associated with genomic stability of human umbilical cord blood mesenchymal stem cells and a detection method of the miRNA marker. A new generation of high-throughput sequencing technology is used, in combination with a bioinformatic analysis method of a system, to screen and obtain the miRNA associated with genomic stability of human umbilical cord blood mesenchymal stem cells, wherein an RNA sequence is shown in SEQ IDNO.1-5. The invention also provides a specific primer for detecting the miRNA and a detection method of the specific primer, wherein conditions for the detection method of human umbilical cord blood mesenchymal stem cells are optimized. Through the detection of the specific miRNA marker provided by the invention, the genomic stability of human umbilical cord blood-derived mesenchymal stem cells after passage or amplification can be estimated effectively, to reduce costs and the risk of subsequent clinical application; the miRNA has excellent clinical application value and broad application prospect.

The invention discloses a homologous recombination defect judgment method based on DNA sequencing data. The method comprises the following steps: acquiring characteristic attributes; extracting validdata; based on a triple learning method framework, selecting three different base classifiers H1, H2 and H3 by considering good generalization ability, high accuracy and processing efficiency for multi-dimensional feature attributes; performing iterative training on the H1, H2 and H3 to obtain an extended training set, and updating a model to complete a training process; and marking a unmarked sample set U by using the trained model, and completing judgment of the HRD state according to the marking result. According to the method, the limitation that HRD state judgment is carried out by usinglocal characteristics such as a single genome instability state or a small number of genome instability states and the like is solved, the difficulty that the number of samples with clinically known HRD states is extremely small is overcome, learning of multi-characteristic attributes under existing sample data is achieved, and the performance of the HRD judgment method can be improved.

The present application relates to methods and compositions for the generation of therapeutic cells having reduced incidence of karyotypic abnormalities. In several embodiments cardiac stem cells are cultured in an antioxidant-supplemented media that reduces levels of reactive oxygen species, but does not down regulate DNA repair mechanisms. In several embodiments, physiological oxygen concentrations are used during culture in order to increase the proliferation of stem cells, decrease the senescence of the cells, decrease genomic instability, and / or augment the functionality of such cells for cellular therapies.

The present invention provides a method that allows highly efficient and highly reliable evaluation of genomic stability of pluripotent stem cells, a method for removing pluripotent stem cells that have been identified as genomically unstable by the evaluation method from a culture of pluripotent stem cells to be evaluated, and a synthetic peptide that can be used for the methods. The methods provided by the present invention include preparing a culture of pluripotent stem cells of interest and analyzing an expression level of calreticulin for the pluripotent stem cells in the culture followed by identifying genomic stability or genomic instability of the stem cells on the basis of the expression level of calreticulin.

The purification of native RB (retinoblastoma) as a complex, including P107, P130, and a 600 kDa subunit, termed MTAF600 (microtubule associated factor 600) is described. MTAF600 binds to RB regardless of the phosphorylation status of RB, and binds to RB without disrupting the interaction between RB and E2F. It is further shown that E2F and DP proteins co-purified with MTAF600 and RB, such that hypophosphorylated RB may gain access to E2F as a complex with MTAF600. In addition, MTAF600 binds to microtubules and plays a role in active repression of E2F-responsive genes, cell cycle arrest, and genomic stability. The sequence of MTAF600 is described herein, along with its binding properties to proteins such as RB and microtubules, and its sequence homology. Further, methods and reagents for assaying the presence of MTAF600 or mutants thereof, pharmaceutical formulations, and methods for treating disease are also described.

This invention relates to the methods and pharmaceutical compositions for treating diseases or disorders associated with oxidative stress and / or genomic instability. In particular, the invention relates to methods for treating ataxia-telangeictasia (AT) and such disease states by administering a therapeutically effective amount of a chelating agent to increase genomic stability and / or decrease oxidative stress.

The present invention provides materials and methods related to modulation of mismatch and genomic stability by miR-155.

The invention provides for systems, methods, compositions, and kits for the complete characterization of targeted nuclease specificity which necessitates techniques that can assess the full possibility space of off-target activity and genomic stability following genome editing. Also provided are the materials and techniques which enable the comprehensive genomic stability accompanying a range of cellular perturbations, including genome editing (ZFN, TALEN, CRISPR, and future technologies) and disease modeling among other applications.

The present invention provides materials and methods related to modulation of mismatch repair and genomic stability by miR-155.

Described herein are methods and compositions related to generation of induced pluripotent stem cells (iPSCs). Improved techniques for establishing highly efficient, reproducible reprogramming using non-integrating episomal plasmid vectors. Using the described reprogramming protocol, one is able to consistently reprogram non-T cells with close to 100% success from non-T cell or non-B cell sources. Further advantages include use of a defined reprogramming media E7 and using defined clinically compatible substrate recombinant human L-521. Generation of iPSCs from these blood cell sources allows for recapitulation of the entire genomic repertoire, preservation of genomic fidelity and enhanced genomic stability.

The invention relates to a method for constructing a target set for homologous recombination repair defect detection. The target set includes homologous recombination repair (homologous recombination repair, HRR) genes and SNP sites, the HRR genes include 40 genes represented by BRCA1 and BRCA2, and the SNP sites include 10913 SNP sites. The present invention screens SNP sites that can fully characterize genomic instability and constructs a target set in combination with HRR genes, and designs a probe composition, which can detect HRR gene variation and simultaneously detect genomic instability Accurate assessment can effectively expand the detection rate of positive homologous recombination repair defects and reduce detection costs.

The invention relates to a method and a kit for determining genome instability based on a second-generation sequencing technology, and belongs to the technical field of molecular detection. In order to overcome the lack of genome structure variation in the detection of homologous recombination defects in the prior art, the present invention provides a method and kit for determining genome instability based on next-generation sequencing technology. In this method, the gene to be tested is interrupted and A Connectors, after corresponding PCR reactions, use the designed probes for hybridization capture, amplify the captured DNA library, perform library sequencing, and then use software to evaluate the homologous recombination defect status. Compared with the existing technology, this method can comprehensively evaluate the HRD status, the data results are reliable, and it is suitable for promotion.

The invention provides an miRNA marker associated with genomic stability of human umbilical cord blood mesenchymal stem cells and a detection method of the miRNA marker. A new generation of high-throughput sequencing technology is used, in combination with a bioinformatic analysis method of a system, to screen and obtain the miRNA associated with genomic stability of human umbilical cord blood mesenchymal stem cells, wherein an RNA sequence is shown in SEQ IDNO.1-5. The invention also provides a specific primer for detecting the miRNA and a detection method of the specific primer, wherein conditions for the detection method of human umbilical cord blood mesenchymal stem cells are optimized. Through the detection of the specific miRNA marker provided by the invention, the genomic stability of human umbilical cord blood-derived mesenchymal stem cells after passage or amplification can be estimated effectively, to reduce costs and the risk of subsequent clinical application; the miRNA has excellent clinical application value and broad application prospect.

The invention provides a detection method for measuring genome instability, comprising: (1) obtaining sequencing data; (2) determining BAF values ​​and LRR values; (3) performing outlier removal; (4) at least one round of analysis segment processing; (5) merging of breakpoint sets; (6) merging of the second-level sorting segments; (7) filtering and cutting of the third-level sorting segments, (8) same distribution test; (9) determination BAF mean value, copy number mean value; (10) Carry out plane coordinate axis clustering and plotting to the BAF mean value, copy number mean percentage ordinal number of the four-level sorting fragments, so as to determine the tumor purity of the tumor sample in the test sample; (11) determine The ploidy correction factor of the sample to be tested; (12) performing BAF value correction and copy number correction; (13) determining the A genotype parameter value and the B genotype parameter value; (14) determining the variation type.

The invention provides a trisome syndrome gene nucleic acid detection quality control product based on CRSIPR-Cas9 and organoid culture. The quality control product is applied to omni-directional monitoring on a trisome syndrome gene detecting process. A preparation method comprises the following steps: (1) carrying out telomerase TERT knock-in expression on peripheral blood lymphocytes derived from a trisome syndrome sufferer by using a CRISPR-Cas9 technology, so as to construct gene-edited lymphocytes capable of stably amplifying and dividing; (2) constructing a brand-new organoid culture system, carrying out large-scale amplification on the gene-edited lymphocytes, and verifying maintaining conditions of chromosomal aberration states of amplified cells through chromosomal karyotype analysis; and (3) mixing the product with wild type human-derived lymphocytes according to a specific proportion, and carrying out accurate quantitative verification, thereby preparing the trisome syndrome gene nucleic acid detection quality control product. A foundation biological genetic background is closer to that of an actual sufferer, the stability is higher compared with that of a genome of a quality control derived from an ordinary sufferer, and omni-directional monitoring on trisome syndrome gene detection is achieved.

The present invention provides a method that allows highly efficient and highly reliable evaluation of genomic stability of pluripotent stem cells, a method for removing pluripotent stem cells that have been identified as genomically unstable by the evaluation method from a culture of pluripotent stem cells to be evaluated, and a synthetic peptide that can be used for the methods. The methods provided by the present invention include preparing a culture of pluripotent stem cells of interest and analyzing an expression level of calreticulin for the pluripotent stem cells in the culture followed by identifying genomic stability or genomic instability of the stem cells on the basis of the expression level of calreticulin.