Resources

Peter and Takako Jones Lab

Part of our lab's mission is to generate, characterize and make freely available novel resources for the FSHD field to advance the pace of FSHD therapeutic development. These include both human cell-lines and animal models (fly and mouse) for FSHD. Whenever possible we have deposited these resources into repositories to ensure their propagation, survival, and uninhibited distribution to academics and interested pharmaceutical companies. Lowering barriers to investment of time, money and resources is key for growing the field and ultimately curing the disease.

FLExDUX4 (FLExD): A tunable FSHD-like mouse (currently unpublished)

Available through Jackson Labs

B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)/Plj/J, catalog #028710

Transgenic Drosophila for investigating FSHD pathogenic mechanisms

Published: T. Jones et al., 2016, PLoS ONE 11(3): e0150938 “Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)”

DUX4 expressing transgenic Drosophila line, P{UASp-hDUX4.MAL}26

Available through Bloomington fly stock center #64455

FRG1 expressing transgenic Drosophila lines, P{UAS-HA-FRG1}11 and P{UAS-HA-FRG1}12

Available through Bloomington fly stock center #64456 and #64457

FSHD family cohorts of 114 lymphoblastoid cell lines

Published: T. Jones et al. 2017, Neuromuscular Disorders (In Press) “Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy”

Available through Coriell Institute for Medical Research Biorepository