生成 CHOPe003-A ESC 细胞系以研究影响平滑肌发育和功能的 ACTG2 变体。
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.
机构信息
Department of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Bioengineering, The University of Pennsylvania School of Engineering and Applied Science, 220 S 33rd St, Philadelphia, PA 19104, United States; Department of Internal Medicine, Hospital of the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States.
Department of Pediatrics, The Children's Hospital of Philadelphia Research Institute, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Neurology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, United States.
出版信息
Stem Cell Res. 2023 Sep;71:103186. doi: 10.1016/j.scr.2023.103186. Epub 2023 Aug 22.
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.
内脏平滑肌功能障碍（“内脏肌病”）会损害肠道、膀胱和子宫功能。这种危及生命的病症的症状包括：肠道严重扩张伴转运缓慢、呕吐、喂养不耐受、生长发育迟缓、膀胱排空不良以及阴道分娩困难。内脏肌病最常见的遗传原因是γ平滑肌肌动蛋白（ACTG2）的杂合点突变（R257C）。我们对 WAe0009-A 人胚胎干细胞系进行基因修饰，使其携带 c.769C>T p.R257C/+ 突变。该细胞系将有助于研究 ACTG2 R257C 杂合变体如何影响平滑肌的发育和功能。
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