Cell Modificction Services

This contract action is for the acquisition of services for which the Government intends to solicit and negotiate with only one source under the authority of Federal Acquisition Regulation (FAR) Subpart 13.106-1(b)(1). The National Institute of Environmental Health Science (NIEHS), Office of Acquisitions (OA) intends to award a single source purchase order to Duke University, iPSC Core Facility, 213 Research Drive, Carl, Bldg., Room 215, Durham, NC, 27710 for the acquisition of Cell Modification Services. The Pediatric Neuroendocrinology Group at the NIEHS recently determined that mutations in the gene SMCHD1 underlie most cases of congenital arhinia, or absent external nose. Intriguingly, mutations in the same gene were previously implicated in a seemingly unrelated disorder call facioscapulohumeral muscular dystrophy type 2, or FSHD2. The Group is now trying to understand how mutations in the same gene can lead to such disparate phenotypes by performing cellular and molecular studies in patient-derived cells. When trying to understand the cause of a disease, it is important to conduct studies using a relevant cell type. In this study, The Pediatric Neuroendocrinology Group will derive induced pluripotent stem cells (iPSC) from skin, muscle, or blood cells samples from patients with arthinia or a rare form of muscular dystrophy called FSHD2. Because arhinia and FSHD2 are both thought to result from early embryonic insults, stem cells are the most appropriate cell type for this study. Over the past few years, the group has created a unique biorepository of patientderived cells, including lymphoblastoid cell lines (LCLs), fibroblasts (from skin biopsies in patients with arhinia), and myoblasts (from muscle biopsies in patients with FSHD2) and now has the opportunity to reprogram a large number of these cells into stem cells.