Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene.

Stem cell research - 1 Dec 2020

Scalise Stefania, Scaramuzzino Luana, Lucchino Valeria, Esposito Claudia, Malatesta Paola, Grillone Katia, Perrotti Nicola, Cuda Giovanni, Parrotta Elvira Immacolata

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Infant

Share to Mutation

Share to Mutation, Missense

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Seizures, Febrile

Source

Identifiers

PMID: 33370868
DOI: 10.1016/j.scr.2020.102083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene.PMID 33370868Read ↗

Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.Semantic proximity Read ↗

Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line.Semantic proximity Read ↗

An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2.Semantic proximity Read ↗

Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.Semantic proximity Read ↗

Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal ActivitySemantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A.Semantic proximity Read ↗

A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing.Semantic proximity Read ↗

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.Semantic proximity Read ↗

Generation of three induced pluripotent stem cell lines (SCVIi014-A, SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.Semantic proximity Read ↗

Derivation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient with a pathogenic KCNQ1 c.1552C > T (p.Arg518Ter) variant.Semantic proximity Read ↗

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid ModelSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.