{Reference Type}: Journal Article
{Title}: Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
{Author}: Cattelani C;Battistella I;Di Leva F;Fioravanti G;Benedicenti F;Stanzial F;Schwienbacher C;Fanelli F;Pramstaller PP;Hicks AA;Conti L;Corti C;
{Journal}: Int J Mol Sci
{Volume}: 23
{Issue}: 21
{Year}: Oct 2022 28
{Factor}: 6.208
{DOI}: 10.3390/ijms232113095
{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.