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De Serres-Bérard, Thiéry; Jauvin, Dominic; Puymirat, Jack; Chahine, Mohamed
Stem cell research, October 2023, 2023-10-00, 20231001, 2023-10-01, Letnik: 72Journal Article
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.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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