Illumina HiSeq 2000 paired end sequencing; Exomes of human leukemic JMML (Juvenile MyeloMonocytic Leukemia) cells and paired fibroblasts (germilne controls) when available
Exomes of human leukemic JMML (Juvenile MyeloMonocytic Leukemia) cells and paired fibroblasts (germilne controls) when available
The study included 15 patients (7 males, 8 females) with JMML. Peripheral blood and/or bone marrow aspirates were collected on EDTA at diagnosis. Non-hematopoietic tissues (fibroblasts) was derived from skin biopsy for each patient xhen available Genomic DNA was extracted from mononuclear cells and fibroblasts using a Qiagen Mini or Midi Kit (Qiagen Gmbh). RNA was extracted from mononuclear cells using the miRNeasy Mini Kit (Qiagen). Concentrations were measured using a NanoDrop® (Thermo Scientific). Targeted enrichment and massive parallel sequencing were performed on paired genomic DNA from leukocytes and fibroblasts. Exome capture was carried out using the SureSelect Human All Exon V4+UTRs or V5 or V5+UTRs or SureSelect Clinical Research (Agilent Technologies, Santa Clara, CA, USA) according to manufacturer's instruction and protocols.
Experimental Factor: individual
patient152
Experimental Factor: disease staging
normal sample
Experimental Factor: genotype
germline genotype
Experimental Factor: cell type
fibroblast