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

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.

SUBMITTER: Hashmi SK

PROVIDER: S-EPMC10509821 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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

Hashmi Sohaib K SK Schneider Sabine S Gagne Alyssa L AL Maguire Jean Ann JA Anderson Sierra S Gadue Paul P Heuckeroth Robert O RO French Deborah L DL

Stem cell research 20230822

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 ce ...[more]

PMID: 37643495

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