Radboudumc and partners Licensing opportunities Genetically matched immortalized muscle cell cultures

Field of Use

Drug screening

Key benefits for end user

  • Well characterized immortalized muscle cell cultures representing key pathophysiological features of facioscapulohumeral dystrophy.
  • Derived from mosaic FSHD1 patients: genetically matched clonal cell lines with or without FSHD1 mutation.


  • Facioscapulohumeral dystrophy (FSHD) is one of the most common muscular dystrophies world-wide (estimated incidence 1:8,500 – 1:15,000);
  • FSHD is characterized by progressive and irreversible loss of facial and upper extremity muscles;
  • No therapy is available for FSHD;
  • FSHD is caused by inappropriate expression of the transcription factor DUX4 in skeletal muscle;
  • In >90% of patients inappropriate DUX4 expression is the consequence of the contraction of the D4Z4 macrosatellite repeat on chromosome 4 to a size of 1-10 units (FSHD1);
  • Half of de novo D4Z4 contractions occur after fertilization resulting in somatic mosaicism: muscles are composed of a mix of genetically affected and unaffected myonuclei.


Genetically matched affected and unaffected FSHD muscle cell lines

Taking advantage of the high frequency of somatic mosaicism in de novo FSHD1, we created pairs of genetically matched immortalized muscle cell lines prior and after D4Z4 contraction from independent mosaic FSHD1 muscle biopsies.

  • Immortalization of primary FSHD1 muscle cell cultures by stable expression of hTERT and Cdk4;
  • Clonal expansion and characterization of genetically affected and unaffected immortalized FSHD1 muscle cells.

Development status

  • Fundamental research: Validated for fundamental tissue culture studies into the causes and consequences of DUX4 expression.
  • Applied research: Validated for drug screening studies into compounds that reduce or prohibit DUX4 expression, or its molecular and cellular consequences.



  • Due to their immortalization and extensive genetic and molecular characterization the genetically matched pairs of FSHD muscle cell cultures are well suited for drug screens:
  • These cell lines have demonstrated use in small molecule drug screens for FSHD (ref 2);
  • These cell lines have demonstrated use in antisense oligonucleotide therapy screens for FSHD (ref 3);
  • These cell lines have demonstrated use in epigenetic modifier screens for FSHD (ref 4).


Outlicensing, collaboration.

Patents and key publications

  1. Krom YD et al., Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007.
  2. Rojas LA et al., p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy. J Pharmacol Exp Ther. 2020 Sep;374(3):489-498. doi: 10.1124/jpet.119.264689.
  3. Lu-Nguyen N et al., Systemic antisense therapeutics inhibiting DUX4 expression ameliorates FSHD-like pathology in an FSHD mouse model. Hum Mol Genet. 2021 May 13:ddab136. doi: 10.1093/hmg/ddab136.
  4. Campbell AE et al., BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells. Skelet Muscle. 2017 Sep 4;7(1):16. doi: 10.1186/s13395-017-0134-x


For more information contact us through businessdevelopment@radboudumc.nl.