| Autor: |
Benjamin Joseph, Isabella Varea, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Caleb Sipwoli, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 80, Iss , Pp 103504- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2024.103504 |
| Popis: |
We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.Ala239Pro mutation, and the expression of typical pluripotency markers within the hiPSC line. The hiPSC line is ready for use as a cellular model of COPA Syndrome. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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