| Autor: |
Derek M. Dykxhoorn, Xiaoying Tong, Nicholas C. Gosstola, Xue Zhong Liu |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 54, Iss , Pp 102405- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2021.102405 |
| Popis: |
Hereditary hearing loss (HL) is the most common sensory disorder with multiple potential modes of inheritance, such as X-linked. Multiple loci have been associated with X-linked HL, including variants in the Small Muscle Protein X-Linked (SMPX) gene responsible for deafness, X-linked 4 (DFNX4) (OMIM 300066). Here we describe the derivation of an induced pluripotent stem cell (iPSC) line from an individual bearing a novel splice variant (c.133–1 G > A) that leads to a frameshift creating a premature stop codon (p.(Gly45Val*36)) in SMPX[1]. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
