DM1-2 iPAX7-hiPS cell line

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.The DM1-2 iPAX7-hiPS cell line is one of 4 total cell lines that are available: […]

Contributors

Inventor Institute
Rita Perlingeiro Kyba The University of Minnesota Twin Cities
Cat. #: 157741
Unit size: 1×10^6 cells / vial
Research Fields: Cell signaling and signal transduction;Drug development
Organism: Human
Model: Stem Cells
Primary citation: Mondragon-Gonzalez and Perlingeiro. 2018. Dis Model Mech. 18:11(7)dmm034728. PMID: 29898953
Alternate name: Myotonic dystrophy 1 (DM-1)
Product 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).
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 re…
Parental cell line: Skin fibroblasts from a diagnosed 18-year-old male DM1 patient
Disease: Muscular dystrophy
Format: Frozen
Shipping conditions: Dry ice
References:

Mondragon-Gonzalez and Perlingeiro. 2018. Dis Model Mech. 18:11(7)dmm034728. PMID: 29898953

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