Coriell Institute Announces New Cell Lines for Muscular Dystrophy Research

January 2017

The FSH Society, the Massachusetts-based non-profit and global leader in the quest to understand and treat facioscapulohumeral muscular dystrophy (FSHD), announced the publication of an important collection of cell lines from individuals with FSHD that will soon be available through the NIGMS Human Genetic Cell Repository at Coriell Institute for Medical Research. Comprised of cell lines from 114 patients representing 12 multigenerational FSHD families, this collection is an invaluable new resource for scientists seeking to understand and develop treatments for one of the most common forms of muscular dystrophy.

This work, begun in 1987 by Daniel P. Perez and the late Stephen J. Jacobsen, PhD, fellow FSHD-patients and co-founders of the FSH Society, represents the culmination of a 30-year journey to generate much-needed resources for the FSHD research community. These cell lines were derived from clinical samples taken from FSHD patients and their unaffected relatives between 1987 and 1992, based on the clinical assessments of Dr. Jacobsen and other neurologists with expertise in the disease. There was no genetic test available for the disease back then.

Unfortunately, information required to allow public distribution of these cell lines was not available at the time. The cells were warehoused in a liquid Nitrogen tank at the Coriell Institute, preserved but not able to be released to the global research community. Over the past two and a half years, Peter and Takako Jones' laboratory at the University of Massachusetts (now at the University of Nevada, Reno School of Medicine) collaborated with the FSH Society and Coriell Institute, where the cells were housed, to confirm the pedigrees by short tandem repeat (STR) analysis and produce critical characterization data relevant to FSHD.

"Through this work we honor the memory and life's work of an old and dear friend. The FSH Society is indebted to the Jones lab, and the biobanking leadership at the Coriell Institute for accomplishing this herculean task, and to the individuals and families who donated specimens all those years ago," said Perez, President, CEO & CSO of the FSH Society. Perez is a senior corresponding author on the study. "It is a privilege to help make these biomaterials openly available to all communities pursuing research and clinical efforts on FSHD. I look forward to seeing what new insights and progress will come from our efforts."

The cell lines were characterized to provide the data describing the multiple genetic features associated with the disease. Specifically, each cell line was characterized at the FSHD region of chromosome 4 for the D4Z4 array proximal simple sequence length polymorphism (SSLP) and array distal subtelomere haplotype, tested for FSHD1 and FSHD2 genetics and epigenetics, and assayed with respect to expression of DUX4, a key gene implicated in the disease. In addition, a subset of cell lines was confirmed to express DUX4 target genes and shown to be responsive to epigenetic drug treatments, indicating their suitability for use in testing therapeutic approaches targeting DUX4 expression.

With this initial characterization, these cell lines and the DNA isolated from them will be made available through the Coriell Institute's online catalog. Currently, 15 individuals out of the 114 patients represented in this study have already been added alongside additional FSHD1 samples already housed in the collection.

The NIGMS Human Genetic Cell Repository at Coriell Institute is sponsored by the National Institute of General Medical Sciences (NIGMS).

Reference: Takako I. Jones, Charis L. Himeda, Daniel P. Perez, and Peter L. Jones. 2016. Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy. Neuromuscular Disorders, 23:975-980.

About the FSH Society
The FSH Society is a world leader in combating muscular dystrophy. The non-profit has provided millions of dollars in seed grants to pioneering research worldwide, creating an international collaborative network of patients and researchers. The FSH Society seeks to serve as a source of information and support for all patients and families with FSHD; act as a driving force in the development of research directed towards treatments and ultimately a cure; and bring support to patients and research for FSHD through effective engagement of governmental and private sector organizations and entities. For eight consecutive years, the Society has received the Charity Navigator's four-star rating, the highest distinction held by less than two percent of non-profit organizations in the country. The FSH Society offers a community of support, news and information for FSHD patients and families through its website at http://www.fshsociety.org. For more information about FSHD, please contact the Society at (781) 301-6649.