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Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A)
- Source :
- Stem Cell Research, Vol 29, Iss, Pp 111-114 (2018)
- Publication Year :
- 2018
-
Abstract
- Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45–50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation.
- Subjects :
- 0301 basic medicine
Homeobox protein NANOG
musculoskeletal diseases
Male
Adolescent
Genotype
Duchenne muscular dystrophy
Induced Pluripotent Stem Cells
030204 cardiovascular system & hematology
medicine.disease_cause
Article
Dystrophin
03 medical and health sciences
Exon
0302 clinical medicine
Degenerative disease
SOX2
medicine
Humans
Induced pluripotent stem cell
lcsh:QH301-705.5
Mutation
biology
Cell Differentiation
Cell Biology
General Medicine
Exons
medicine.disease
Muscular Dystrophy, Duchenne
030104 developmental biology
lcsh:Biology (General)
biology.protein
Cancer research
Developmental Biology
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....cab3316792356d8928570a7193b4c3a9