| Autor: |
Phitchapa Pongpaksupasin, Wasinee Wongkummool, Pirut Tong-Ngam, Natee Jearawiriyapaisarn, Kittiphong Paiboonsukwong, Siripakorn Sangkitporn, Adisak Trinavarat, La-Ongsri Atchaneeyasakul, Alisa Tubsuwan |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 65, Iss , Pp 102964- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102964 |
| Popis: |
Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28. The MUi032-A showed normal karyotype and a hemizygous c.715C > T mutation. They expressed pluripotency markers and differentiated into cells derived from three germ layers. This cell line may be useful for disease mechanisms and gene therapy studies. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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