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Updated: Jul 17, 2025
Isolation of Primary Patient-specific Aortic Smooth Muscle Cells and Semiquantitative Real-time Contraction Measurements In Vitro
Published on: February 15, 2022
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
Sohaib K Hashmi1, Sabine Schneider2, Alyssa L Gagne3
1Department of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Bioengineering, The University of Pennsylvania School of Engineering and Applied Science, 220 S 33rd St, Philadelphia, PA 19104, United States; Department of Internal Medicine, Hospital of the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States.
Abstract:
Dysfunction of visceral smooth muscle ("visceral myopathy") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure, poor bladder emptying, and difficult vaginal delivery. The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>T p.R257C/+ mutation. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function.
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