| Autor: |
Tomoya Shimizu, Mami Matsuo-Takasaki, Dorian Luijkx, Miho Takami, Yutaka Arai, Michiya Noguchi, Yukio Nakamura, Tadayoshi Hayata, Megumu K. Saito, Yohei Hayashi |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 61, Iss , Pp 102744- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102744 |
| Popis: |
DiGeorge syndrome (22q11.2 deletion syndrome, or CATCH22 syndrome), caused by hemizygous deletion of chromosome 22q11.2, results in the poor development of multiple organs. Here we have generated DiGeorge syndrome-specific human induced pluripotsnt stem cells (hiPSCs) derived from four patients. These established hiPSC lines showed self-renewal and pluripotency and carried a hemizygous deletion in 22q11.2. Since the molecular pathogenesis of DiGeorge syndrome caused by the 22q11.2 deletion is largely unknown, these cell resources will be useful for recapitulating disease phenotypes and for developing new therapies for DiGeorge syndrome. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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