Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function

• DOI: 10.1016/j.scr.2023.103186
• Publication Date: 2023-08-22T06:32:13Z
• Authors: Sohaib K. Hashmi; Sabine Schneider; Alyssa L. Gagne; Jean Ann Maguire; Sierra Anderson; Paul Gadue; Robert O. Heuckeroth; Deborah L. French
• Keywords: Heterozygote; Muscular Diseases; QH301-705.5; Humans; Female; Biology (General); Muscle Development; Article; Embryonic Stem Cells; Actins; 3. Good health; Cell Line

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.