http://purl.uniprot.org/citations/34067464 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/34067464 | http://www.w3.org/2000/01/rdf-schema#comment | "Background: Spindle cell rhabdomyosarcoma (S-RMS) is a rare tumor that was previously considered as an uncommon variant of embryonal RMS (ERMS) and recently reclassified as a distinct RMS subtype with NCOA2, NCOA1, and VGLL2 fusion genes. In this study, we established a cell line (S-RMS1) derived from a four-month-old boy with infantile spindle cell RMS harboring SRF-NCOA2 gene fusion. Methods: Morphological and molecular characteristics of S-RMS1 were analyzed and compared with two RMS cell lines, RH30 and RD18. Whole genome sequencing of S-RMS1 and clinical exome sequencing of genomic DNA were performed. Results: S-RMS1 showed cells small in size, with a fibroblast-like morphology and positivity for MyoD-1, myogenin, desmin, and smooth muscle actin. The population doubling time was 3.7 days. Whole genome sequencing demonstrated that S-RMS1 retained the same genetic profile of the tumor at diagnosis. A Western blot analysis showed downregulation of AKT-p and YAP-p while RT-qPCR showed upregulation of endoglin and GATA6 as well as downregulation of TGFßR1 and Mef2C transcripts. Conclusion: This is the first report of the establishment of a cell line from an infantile spindle cell RMS with SRF-NCOA2 gene fusion. S-RMS1 should represent a useful tool for the molecular characterization of this rare and almost unknown tumor."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms22115484"xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Russo I."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Miele E."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Digilio M.C."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Novelli A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "De Stefanis C."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Guffanti A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Ciolfi A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Rinelli M."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Colletti M."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Alaggio R."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Zin A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "De Angelis B."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Di Paolo V."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "De Vito R."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Milano G.M."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Di Giannatale A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/author | "Galardi A."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/pages | "5484"xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/title | "Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript."xsd:string |
http://purl.uniprot.org/citations/34067464 | http://purl.uniprot.org/core/volume | "22"xsd:string |