Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A)
Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene. In this study, we successfully reprogrammed dermal fibroblasts derived from two pediatric CDM pat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002209 |
| _version_ | 1797642614723313664 |
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| author | Thiéry De Serres-Bérard Dominic Jauvin Jack Puymirat Mohamed Chahine |
| author_facet | Thiéry De Serres-Bérard Dominic Jauvin Jack Puymirat Mohamed Chahine |
| author_sort | Thiéry De Serres-Bérard |
| collection | DOAJ |
| description | Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene. In this study, we successfully reprogrammed dermal fibroblasts derived from two pediatric CDM patients and two age-matched individuals into induced pluripotent stem cells (iPSCs) using a non-integrating viral vector. The resulting CDM iPSC lines harbored approximately about 2000 CTG in the mutated DMPK allele. These iPSC lines expressed pluripotency markers and exhibited the capacity to differentiate into cells representing all three germinal layers, confirming their reliability as a research tool for investigating CDM and therapeutic strategies. |
| first_indexed | 2024-03-11T14:02:31Z |
| format | Article |
| id | doaj.art-fee75a1a77474c828411d3e7eafd5548 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-11T14:02:31Z |
| publishDate | 2023-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-fee75a1a77474c828411d3e7eafd55482023-11-02T04:13:33ZengElsevierStem Cell Research1873-50612023-10-0172103234Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A)Thiéry De Serres-Bérard0Dominic Jauvin1Jack Puymirat2Mohamed Chahine3CERVO Brain Research Center, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, CanadaCERVO Brain Research Center, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, CanadaLOEX, CHU de Québec-Université Laval Research Center, Quebec City, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1J 1Z4, CanadaCERVO Brain Research Center, Institut Universitaire en Santé Mentale de Québec, Quebec City, QC G1J 2G3, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC G1J 1Z4, Canada; Corresponding author.Congenital myotonic dystrophy (CDM) is an autosomal dominant multisystemic disorder attributed to a large expansion of CTG trinucleotide repeats within the myotonic dystrophy protein kinase (DMPK) gene. In this study, we successfully reprogrammed dermal fibroblasts derived from two pediatric CDM patients and two age-matched individuals into induced pluripotent stem cells (iPSCs) using a non-integrating viral vector. The resulting CDM iPSC lines harbored approximately about 2000 CTG in the mutated DMPK allele. These iPSC lines expressed pluripotency markers and exhibited the capacity to differentiate into cells representing all three germinal layers, confirming their reliability as a research tool for investigating CDM and therapeutic strategies.http://www.sciencedirect.com/science/article/pii/S1873506123002209 |
| spellingShingle | Thiéry De Serres-Bérard Dominic Jauvin Jack Puymirat Mohamed Chahine Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) Stem Cell Research |
| title | Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) |
| title_full | Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) |
| title_fullStr | Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) |
| title_full_unstemmed | Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) |
| title_short | Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and Age-Matched controls (CBRCULi010-A and CBRCULi011-A) |
| title_sort | generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy cbrculi012 a and cbrculi013 a and age matched controls cbrculi010 a and cbrculi011 a |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002209 |
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