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Contributor Information

  • Name Rita Perlingeiro Kyba
  • Institute The University of Minnesota Twin Cities

Tool Details

  • Tool name: DM1-1 iPAX7-hiPS cell line
  • Alternate names: Myotonic dystrophy 1 (DM-1)
  • Tool type: Cell Lines
  • Parental cell line: skin fibroblasts from a diagnosed DM1 patient
  • Organism: Human
  • Disease: muscular dystrophy
  • Model: Stem Cells
  • Description: Myotonic dystrophy is a genetic disease characterized by a loss of muscle function. Myotonic dystrophy type 1 (DM1), the most common form of myotonia, is caused by mutations in the DMPK gene. Currently, there is no cure or treatment for DM1. 4 total cell lines are available: 2 undifferentiated hiPSC lines from two DM1 patients (DM1-1 hiPS cell line, DM1-2 hiPS cell line) and 2 differentiated skeletal muscle cell lines (DM1-1 iPAX7-hiPS cell line and DM1-2 iPAX7-hiPS cell line).
  • Research area: Cell Signaling & Signal Transduction ; Drug Discovery & Development
  • Production details: To generate a cell-based model for DM1, researchers obtained a sample of skin fibroblasts from two diagnosed DM1 patients. These fibroblasts (DM1-1 and DM1-2) were reprogrammed to hiPS cells via the Sendai virus method. Following reprogramming, DM1-1 and DM1-2 hiPS cells were modified to express PAX7 under the presence of exogenous doxycycline. Expression of PAX7 results in the differentiation of the DM1-1 and DM1-2 hiPSC cells into skeletal muscle cells. These differentiated muscle cells recapitulate similar characteristics of muscle cells from DM1 patients.

  • For Research Use Only

Target Details

  • Target: myotonic dystrophy protein kinase (DMPK)

Application Details

Handling

  • Format: Frozen
  • Shipping conditions: Dry ice

Documentation

  • Available on request

References