characteristics.text: SAMN13612193
characteristics.characteristic: External Id
characteristics.text: Hospital de la Princesa
characteristics.characteristic: INSDC center name
characteristics.text: 2022-02-02T00:50:20.983Z
characteristics.characteristic: INSDC first public
characteristics.text: 2022-02-02T00:50:20.983Z
characteristics.characteristic: INSDC last update
characteristics.text: SRS5841258
characteristics.characteristic: INSDC secondary accession
characteristics.text: live
characteristics.characteristic: INSDC status
characteristics.text: Human
characteristics.characteristic: NCBI submission model
characteristics.text: Human.1.0
characteristics.characteristic: NCBI submission package
characteristics.text: SRS5841258
characteristics.characteristic: SRA accession
characteristics.text: 46
characteristics.characteristic: age
characteristics.text: Elena Fernandez-Ruiz Molecular Biology Department University Hospital La Princesa
characteristics.characteristic: biomaterial provider
characteristics.text: B cell precursor acute lymphoblastic leukaemia (B-ALL) is a malignancy of lymphoid progenitor cells with altered genes including the non-receptor Janus kinase (JAK) gene family. Tyrosine kinase 2 (TYK2) is a high polymorphic member of the JAK family involved in signal transduction of cytokines. The main goal of this study was to search for disease-associated TYK2 variants in bone marrow samples from B-ALL patients at diagnosis by next-generation sequencing.
characteristics.characteristic: description
characteristics.text: B-cell Acute Lymphoblastic Leukemia
characteristics.ontologyTerms: http://www.ebi.ac.uk/efo/EFO_0000094
characteristics.characteristic: disease
characteristics.text: diagnosis
characteristics.characteristic: disease_stage
characteristics.text: caucasian
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/HANCESTRO_0005
characteristics.characteristic: ethnicity
characteristics.text: 12/4044
characteristics.characteristic: isolate
characteristics.text: Hyper (47-50)
characteristics.characteristic: karyotype
characteristics.text: Homo sapiens
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/NCBITaxon_9606
characteristics.characteristic: organism
characteristics.text: tissue sample
characteristics.characteristic: sample type
characteristics.text: female
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/PATO_0000383
characteristics.characteristic: sex
characteristics.text: bone marrow
characteristics.characteristic: tissue
characteristics.text: Human sample from Homo sapiens
characteristics.characteristic: title