Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation
| Autor: | Chun Wai Lo, Sheng Zhu, Kelvin Y.K. Chan, W.W.M. Pim Pijnappel, Anna Ka Yee Kwong, Sophelia H. S. Chan, Anna Hing Yee Law, Godfrey Chi-Fung Chan, Wai Lap Wong, Ellen Ngar Yun Poon, Kian Cheng Tan-Un, Rui Liang, Ruixia Deng |
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| Přispěvatelé: | Internal Medicine, Clinical Genetics, Pediatrics |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Cardiomyopathy Dilated Male Induced Pluripotent Stem Cells Germ layer Biology medicine.disease_cause Peripheral blood mononuclear cell 03 medical and health sciences Kruppel-Like Factor 4 Young Adult 0302 clinical medicine SOX2 medicine Humans Myocytes Cardiac Induced pluripotent stem cell lcsh:QH301-705.5 Mutation Point mutation Cell Differentiation Cell Biology General Medicine Genomics biology.organism_classification Sendai virus Cell biology 030104 developmental biology lcsh:Biology (General) KLF4 Leukocytes Mononuclear 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research, 49:102040. Elsevier Inc. Stem Cell Research, Vol 49, Iss, Pp 102040-(2020) |
| ISSN: | 1873-5061 |
| Popis: | We derived an integration-free induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 23-year-old male patient. This patient carries a 5′ splice site point mutation in intron 1 (c.31+1G > A) of the dystrophin gene, a mutation associated with X-linked dilated cardiomyopathy (XLDCM). Sendai virus was used to reprogram the PBMCs and deliver OCT3/4, SOX2, c-MYC, and KLF4 factors. The iPSC line (HKUi002-A) generated preserved the mutation, expressed common pluripotency markers, differentiated into three germ layers in vivo, and exhibited a normal karyotype. Further differentiation into cardiomyocytes enables the study of the disease mechanisms of XLDCM. |
| Databáze: | OpenAIRE |
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