Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant
Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking of membrane proteins in the cilium, a pro...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Elsevier
2019-12-01
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| سلاسل: | Stem Cell Research |
| الوصول للمادة أونلاين: | http://www.sciencedirect.com/science/article/pii/S1873506119302247 |
| الوسوم: |
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