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- Title
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
- Authors
Cattelani, Cecilia; Battistella, Ingrid; Di Leva, Francesca; Fioravanti, Giulia; Benedicenti, Francesco; Stanzial, Franco; Schwienbacher, Christine; Fanelli, Francesca; Pramstaller, Peter P.; Hicks, Andrew A.; Conti, Luciano; Corti, Corrado
- Abstract
Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial features and early onset of refractory seizures. Here we report the generation of the first induced pluripotent stem cell (iPSC) lines from a patient with treatment-resistant epilepsy, carrying compound heterozygous mutations in SZT2 (Mut1: c.498G>T and Mut2: c.6553C>T), and his healthy heterozygous parents. Peripheral blood mononuclear cells were reprogrammed by a non-integrating Sendai virus-based reprogramming system. The generated human iPSC lines exhibited expression of the main pluripotency markers, the potential to differentiate into all three germ layers and presented a normal karyotype. These lines represent a valuable resource to study neurodevelopmental alterations, and to obtain mature, pathology-relevant neuronal populations as an in vitro model to perform functional assays and test the patient's responsiveness to novel antiepileptic treatments.
- Subjects
INDUCED pluripotent stem cells; RECESSIVE genes; MONONUCLEAR leukocytes; GENETIC mutation; PEOPLE with epilepsy; EPIBLAST
- Publication
International Journal of Molecular Sciences, 2022, Vol 23, Issue 21, p13095
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms232113095