Horizon Discovery Limited

Intima Bioscience, Inc.

Tilmann Buerckstuemmer

Mavis Agbandje-McKenna

Modassir Choudhry

Thomas Henley

Lydia Viney

The invention provides for a somatic fully haploid, karyotypically stable human cell line, e.g. obtainable by targeted deletion of one or more disomic chromosomal regions of a somatic near-haploid human parental cell, a method of producing the same, as well as the use of the cell line for producing isogenic cell variants, comprising genomic mutations at different genomic target sites, and a library of such cell variants.

Somatic haploid human cell line

Genetically modified compositions, such as adeno-associated viral vectors and primary cells, for treating various conditions and diseases. Disclosed are also modified adeno-associated viruses for the treatment of cancer. Also disclosed are the methods of making and using the genetically modified compositions in treating various diseases, conditions, and cancer.

Adeno-associated viral vectors for gene therapy

The invention provides for a method of producing a mutant somatic human cell line of cells comprising a genomic mutation of interest (MOI) at a predefined genomic site of interest (GOI) in close proximity to a genomic target site, which comprises: a) providing a guide RNA (gRNA) comprising a tracrRNA in conjunction with crRNA including an oligonucleotide sequence that hybridizes with the target site; b) providing an RNA-guided endonuclease which catalyzes the DNA break at the target site upon hybridizing with the gRNA; c) introducing the gRNA into the cells in the presence of the endonuclease to obtain a repertoire of cells comprising a variety of genomic mutations at the target site; d) selecting a cell from said repertoire which comprises a MOI; wherein the cell is haploid for the genomic locus of the target site; and e) expanding the cell to obtain the mutant cell line. The invention further provides for a mutant human somatic cell line obtainable by such method; and libraries of mutant human somatic cell lines of isogenic cells with a variety of genomic mutations at different predefined genomic target sites.

Growing community of inventors

Vienna, Austria

Tilmann Buerckstuemmer