| Autor: |
Jiehui Ma, Kun Ni, Wei Cai, Bingying li, Qiaoqiao Qian, Dan Sun |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 57, Iss , Pp 102589- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102589 |
| Popis: |
Brown-Vialetto-Van Laere syndrome-2 is a rare neurological disorder characterized by sensory neuronopathy and pontobulbar palsy, caused by variations in SLC52A2 and SLC52A3 genes, encoding the riboflavin transporters. By reprogramming with SOX2, KLF4, c-MYC and OCT3/4, we generated an iPSC cell line from peripheral blood mononuclear cells (PBMCs) collected from a three-year-old Chinese female individual to be used as a disease model. By fully examination, the resulting iPSCs expressed pluripotency-associated stem cell markers, maintained the normal karyotype and proliferative potential for three-germ layer differentiation. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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