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


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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Hashmi SK, Schneider S, Gagne AL, Maguire JA, Anderson S, Gadue P, Heuckeroth RO, French DL
Journal Stem cell research
Publication Date 2023 Sep;71:103186
PubMed 37643495
PubMed Central PMC10509821
DOI 10.1016/j.scr.2023.103186

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