| Autor: |
Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Dema Ali, Sabal Al Hadidi, Mohammad A. Ismail, Ahmed S.H. Muamar, Ahmed A. Abdulelah, Adan Madadha, Malik Sallam, Yazan Hassona, Amira Masri, Abdalla Awidi |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 62, Iss , Pp 102786- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102786 |
| Popis: |
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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