Autor: |
Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan |
Jazyk: |
angličtina |
Rok vydání: |
2020 |
Předmět: |
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Zdroj: |
Stem Cell Research, Vol 49, Iss , Pp 102040- (2020) |
Druh dokumentu: |
article |
ISSN: |
1873-5061 |
DOI: |
10.1016/j.scr.2020.102040 |
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: |
Directory of Open Access Journals |
Externí odkaz: |
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