Contacts

CORE C: Cell Core
PRINCIPAL INVESTIGATOR: Charles P. Emerson

DESCRIPTION: The Cell Core C is the keystone of the FSHD-Wellstone research activities and is responsible for the development and maintenance of reagents for its investigators and the FSHD research community at-large. Every project in this Wellstone MD CRC will draw from its resources. A FSHD tissue bank (Aim 1) has been established from patients and first-degree family members specifically recruited, screened and enrolled to provide high quality and highly relevant biological specimens. Open muscle biopsies of FSHD muscle and control muscle are being obtained from 3 participating sites: Johns Hopkins, University of Utah and University of Sao Paulo, and distributed to multiple institutions for studies proposed. The Cell and Molecular Lab (Aim 2) of the Core is located at BBRI and performs several functions including the establishment of primary and secondary cultures and selected immortalized clonal lines from biopsy materials of FSHD subjects and primary relatives. Additionally, evaluation of biochemical, cell biological, proteomic and molecular data obtained from the relevant cell cultures and immortalized cell lines is being made available to the FSHD scientific community through the establishment of a national resource FSHD muscle cell repository. An FSHD myoblast cell repository (Aim 3) is being established through collaboration with Genzyme/Myosix and an FSHD lymphocyte repository will be established with The Coriell Institute. Finally the Bioinformatics Support Group (Aim 4) has a large role in this Center, serving all projects as well as individual aspects of the Cell Core.