Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation
Patients carrying IPO8 bi-allelic loss-of-function variants have a highly consistent phenotype that resembles the phenotype of Loeys-Dietz syndrome. They present with early onset thoracic aortic aneurysm (TAA) and connective tissue findings such as arachnodactyly and joint hypermobility. Other recur...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123000478 |