| Autor: |
Stefania Scalise, Luana Scaramuzzino, Valeria Lucchino, Claudia Esposito, Paola Malatesta, Katia Grillone, Nicola Perrotti, Giovanni Cuda, Elvira Immacolata Parrotta |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Stem Cell Research, Vol 49, Iss , Pp 102083- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2020.102083 |
| Popis: |
Here, we described the generation of human induced pluripotent stem cell lines (hiPSCs) from fibroblasts isolated by punch biopsies of two siblings carrying inherited mutation (c.434 T > C) in the SCN1A gene, encoding for the neuronal voltage gated sodium channel NaV1.1. The mutation leads to the substitution of a highly conserved methionine with a threonine (M145T) in the protein sequence, leading to infant febrile seizures (FS). The older brother, affected by complex FS, also developed temporal lobe epilepsy (TLE) during adolescence. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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