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.

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene / 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. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 23:21(2022), p. 13095. [10.3390/ijms232113095]

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene

Cattelani, Cecilia;Battistella, Ingrid;Di Leva, Francesca;Fioravanti, Giulia;Conti, Luciano;
2022-01-01

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.
2022
21
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
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene / 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. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 23:21(2022), p. 13095. [10.3390/ijms232113095]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11572/363791
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