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 d...

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Autores principales: Hashmi, Sohaib K., Schneider, Sabine, Gagne, Alyssa L., Maguire, Jean Ann, Anderson, Sierra, Gadue, Paul, Heuckeroth, Robert O., French, Deborah L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509821/
https://www.ncbi.nlm.nih.gov/pubmed/37643495
http://dx.doi.org/10.1016/j.scr.2023.103186
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author Hashmi, Sohaib K.
Schneider, Sabine
Gagne, Alyssa L.
Maguire, Jean Ann
Anderson, Sierra
Gadue, Paul
Heuckeroth, Robert O.
French, Deborah L.
author_facet Hashmi, Sohaib K.
Schneider, Sabine
Gagne, Alyssa L.
Maguire, Jean Ann
Anderson, Sierra
Gadue, Paul
Heuckeroth, Robert O.
French, Deborah L.
author_sort Hashmi, Sohaib K.
collection PubMed
description 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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spelling pubmed-105098212023-09-20 Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function Hashmi, Sohaib K. Schneider, Sabine Gagne, Alyssa L. Maguire, Jean Ann Anderson, Sierra Gadue, Paul Heuckeroth, Robert O. French, Deborah L. Stem Cell Res Article 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. 2023-09 2023-08-22 /pmc/articles/PMC10509821/ /pubmed/37643495 http://dx.doi.org/10.1016/j.scr.2023.103186 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Hashmi, Sohaib K.
Schneider, Sabine
Gagne, Alyssa L.
Maguire, Jean Ann
Anderson, Sierra
Gadue, Paul
Heuckeroth, Robert O.
French, Deborah L.
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title_full Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title_fullStr Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title_full_unstemmed Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title_short Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function
title_sort generation of chope003-a esc line to study an actg2 variant affecting smooth muscle development and function
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509821/
https://www.ncbi.nlm.nih.gov/pubmed/37643495
http://dx.doi.org/10.1016/j.scr.2023.103186
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