Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells

• Published in: Scientific data 2018-06, Vol.5 (1), p.180106-180106, Article 180106
• Main Authors: Ferrer, Marc, Gosline, Sara J. C., Stathis, Marigo, Zhang, Xiaohu, Guo, Xindi, Guha, Rajarshi, Ryman, Dannielle A., Wallace, Margaret R., Kasch-Semenza, Laura, Hao, Haiping, Ingersoll, Roxann, Mohr, David, Thomas, Craig, Verma, Sharad, Guinney, Justin, Blakeley, Jaishri O.
• Format: Article
• Language: English
• Subjects: 631/154/1435/2163; 631/61/32; 631/67/69; Antineoplastic Agents - therapeutic use; Autosomal dominant inheritance; Cell Line, Tumor; Cell proliferation; Data Descriptor; Drug discovery; Gene Expression Profiling; Genetic disorders; Genetic transformation; High-throughput screening; Humanities and Social Sciences; Humans; multidisciplinary; Mutation; Nervous system; Neurofibroma, Plexiform - genetics; Neurofibroma, Plexiform - pathology; Neurofibroma, Plexiform - therapy; Neurofibromatosis; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromatosis 1 - therapy; Neurological disorders; Pain; Plexiform neurofibroma; Progenitor cells; Recklinghausen's disease; Schwann Cells; Science; Single-nucleotide polymorphism; Solid tumors; Stem cells; Tumors
• ISSN: 2052-4463; 2052-4463
• DOI: 10.1038/sdata.2018.106

Neurofibromatosis type I (NF1) is an autosomal dominant genetic condition characterized by peripheral nervous system tumors (PNSTs), including plexiform neurofibromas (pNFs) that cause nerve dysfunction, deformity, pain damage to adjacent structures, and can undergo malignant transformation. There are no effective therapies to prevent or treat pNFs. Drug discovery efforts are slowed by the ‘benign’ nature of the Schwann cells that are the progenitor cells of pNF. In this work we characterize a set of pNF-derived cell lines at the genomic level (via SNP Arrays, RNAseq, and Whole Exome- Sequencing), and carry out dose response-based quantitative high-throughput screening (qHTS) with a collection of 1,912 oncology-focused compounds in a 1536-well microplate cell proliferation assays. Through the characterization and screening of NF1 −/− , NF1 +/+ and NF1 +/− Schwann cell lines, this resource introduces novel therapeutic avenues for the development for NF1 associated pNF as well as all solid tumors with NF1 somatic mutations. The integrated data sets are openly available for further analysis at http://www.synapse.org/pnfCellCulture . Design Type(s) cell component comparison design • disease state design Measurement Type(s) single nucleotide polymorphism genotyping • Whole Transcriptome Sequencing • exome sequencing assay • cell growth Technology Type(s) SNP microarray • RNA sequencing • DNA sequencing • Antitumor Drug Screening Assay Factor Type(s) genotype • cell type Sample Characteristic(s) Homo sapiens • blood • Schwann cell • Schwann cell line • foreskin fibroblast cell line Machine-accessible metadata file describing the reported data (ISA-Tab format)