Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation
| Autor: | Yuting Lou, Min Sheng, Jianda Wang, Wangyang Chen, Yufan Guo, Jianhua Feng, ZhiLiang Wang, Bijun Zhang, Liuyan Gao, Ye Wang |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Refractory seizures Poor prognosis Heterozygote KCNB1 gene Induced Pluripotent Stem Cells Biology medicine.disease_cause Peripheral blood mononuclear cell 03 medical and health sciences 0302 clinical medicine Shab Potassium Channels medicine Humans Induced pluripotent stem cell lcsh:QH301-705.5 Mutation Epileptic encephalopathy Infant Cell Biology General Medicine Early Infantile Epileptic Encephalopathy 030104 developmental biology lcsh:Biology (General) Cancer research Leukocytes Mononuclear Female Spasms Infantile 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 52, Iss, Pp 102224-(2021) |
| ISSN: | 1876-7753 |
| Popis: | Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. A recent study has shown that the KCNB1 gene mutation is associated with EE26; yet, the exact mechanism remains unclear. In this study, we produced an induced pluripotent stem cell line (iPSC) with a heterozygous variant of the KCNB1 gene (c.990G > T, p.Glu330Asp). Induced iPSCs were generated from peripheral blood mononuclear cells (PBMCs) obtained from a female child aged 6 with KCNB1 gene c. 990G > T and p.Glu330Asp heterozygous mutation. |
| Databáze: | OpenAIRE |
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