Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)
Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c.1966_1969dup (p.Ser657Trpfs*25) were reprogrammed...
Gardado en:
| Principais autores: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2021-08-01
|
| Series: | Stem Cell Research |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S1873506121002841 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|