Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction
Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal distension, and may depend on intraveno...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-09-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001629 |
| _version_ | 1797692046382727168 |
|---|---|
| author | Sohaib K. Hashmi Sabine Schneider Alyssa L. Gagne Jean Ann Maguire Paul Gadue Robert O. Heuckeroth Deborah L. French |
| author_facet | Sohaib K. Hashmi Sabine Schneider Alyssa L. Gagne Jean Ann Maguire Paul Gadue Robert O. Heuckeroth Deborah L. French |
| author_sort | Sohaib K. Hashmi |
| collection | DOAJ |
| description | Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal distension, and may depend on intravenous nutrition for survival. Unfortunately, our limited understanding of the pathophysiology of visceral myopathies means that current therapies remain supportive, with no mechanism-based treatments. We developed a patient-derived iPSC line with a c.769C > T p.R257C/+ mutation, the most common genetic cause of visceral myopathy. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function. |
| first_indexed | 2024-03-12T02:22:00Z |
| format | Article |
| id | doaj.art-4d7e31628f844c3eb5d1636a51cd245c |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-12T02:22:00Z |
| publishDate | 2023-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-4d7e31628f844c3eb5d1636a51cd245c2023-09-06T04:50:54ZengElsevierStem Cell Research1873-50612023-09-0171103176Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstructionSohaib K. Hashmi0Sabine Schneider1Alyssa L. Gagne2Jean Ann Maguire3Paul Gadue4Robert O. Heuckeroth5Deborah L. French6Department of Pediatrics, The Children’s Hospital of Philadelphia Research Institute and the Perelman School of Medicine at the University of Pennsylvania, Abramson Research Center, 3615 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 StatesDepartment of Pediatrics, The Children’s Hospital of Philadelphia Research Institute and the Perelman School of Medicine at the University of Pennsylvania, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Department of Neurology, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, United StatesCenter for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCenter for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United StatesCenter for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United StatesDepartment of Pediatrics, The Children’s Hospital of Philadelphia Research Institute and the Perelman School of Medicine at the University of Pennsylvania, Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, United States; Corresponding authors at: Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States (Deborah L. French).Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Corresponding authors at: Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, United States (Deborah L. French).Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal distension, and may depend on intravenous nutrition for survival. Unfortunately, our limited understanding of the pathophysiology of visceral myopathies means that current therapies remain supportive, with no mechanism-based treatments. We developed a patient-derived iPSC line with a c.769C > T p.R257C/+ mutation, the most common genetic cause of visceral myopathy. This cell line will facilitate studies of how the ACTG2 R257C heterozygous variant affects smooth muscle development and function.http://www.sciencedirect.com/science/article/pii/S1873506123001629 |
| spellingShingle | Sohaib K. Hashmi Sabine Schneider Alyssa L. Gagne Jean Ann Maguire Paul Gadue Robert O. Heuckeroth Deborah L. French Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction Stem Cell Research |
| title | Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction |
| title_full | Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction |
| title_fullStr | Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction |
| title_full_unstemmed | Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction |
| title_short | Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction |
| title_sort | generation of chopi012 a ipsc line from a patient with visceral myopathy related chronic intestinal pseudo obstruction |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001629 |
| work_keys_str_mv | AT sohaibkhashmi generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT sabineschneider generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT alyssalgagne generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT jeanannmaguire generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT paulgadue generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT robertoheuckeroth generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction AT deborahlfrench generationofchopi012aipsclinefromapatientwithvisceralmyopathyrelatedchronicintestinalpseudoobstruction |