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

Stem Cell Res. 2023 Aug 22;71:103186. doi: 10.1016/j.scr.2023.103186. Online ahead of print.ABSTRACTDysfunction 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.PMID:37643495 | DOI:10.1016/j.scr.2023.103186
Source: Cell Research - Category: Cytology Authors: Source Type: research