| Autor: |
Tingting Yin, Bingbing Wu, Ting Peng, Yunfei Liao, Shuangyun Jiao, Huijun Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 69, Iss , Pp 103118- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2023.103118 |
| Popis: |
A human induced pluripotent stem cell line (iPSC), FDCHi010-A, was derived from the peripheral blood of a 3-year-old patient with the c.2062C > T (p.R688*) mutation in the AHDC1 gene. The established cell line displayed a typical human embryonic stem cell-like morphology, exhibited a normal euploid karyotype, and fully expressed pluripotency markers. In addition, it retained the ability to differentiate to three germ layers. This cell line with a specific mutation may provide a useful tool for studying the pathogenesis and drug therapy screening of Xia-Gibbs syndrome caused by the AHDC1 gene. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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