{"database":"biostudies-arrayexpress","file_versions":[],"scores":null,"additional":{"submitter":["Fazio Grazia"],"organism":["Homo sapiens"],"software":["Local run manager"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/E-MTAB-14349"],"description":["The PAX5 gene is one of the cancer predisposing genes that confer high penetrance susceptibility selectively to childhood BCP-ALL. Here we report a family with a new combination of PAX5 germline and somatic variants."],"repository":["biostudies-arrayexpress"],"sample_protocol":["Sample Collection - Mononuclear cell by ficoll density purification of Bone Marrow samples","Nucleic Acid Extraction - DNA was extracted from cell pellets using the Promega kit Wizard® SV Genomic DNA Purification Systems.","Library Construction - For library preparation we used the Illumina Nextera Flex for Enrichment protocol using IDT probes","Sequencing - The NGS run has been performed on NexSeq550 Illumina platform, 2x150"],"figure_sub":["Organization","MINSEQE Score","Assays and Data","MAGE-TAB Files"],"omics_type":["Unknown","Transcriptomics","Genomics","Proteomics"],"instrument_platform":["NextSeq 550"],"study_type":["DNA-seq"],"species":["Homo sapiens"],"pubmed_authors":["Fazio Grazia"],"additional_accession":[]},"is_claimable":false,"name":"Family with PAX5 Germline Mutation in siblings affected by Acute Lymphoblastic Leukemia","description":"The PAX5 gene is one of the cancer predisposing genes that confer high penetrance susceptibility selectively to childhood BCP-ALL. Here we report a family with a new combination of PAX5 germline and somatic variants.","dates":{"release":"2025-08-31T00:00:00Z","modification":"2025-08-31T01:02:24.674Z","creation":"2024-08-09T09:51:05.554Z"},"accession":"E-MTAB-14349","cross_references":{"ENA":["ERP163130"],"EFO":["EFO_0002944","EFO_0004170","EFO_0002693","EFO_0005518","EFO_0004184"]}}