Back to Search
Start Over
Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy
- Source :
- Stem Cell Research, Vol 45, Iss, Pp-(2020)
- Publication Year :
- 2020
- Publisher :
- Elsevier, 2020.
-
Abstract
- Epilepsy is a neurological disorder, characterized by recurrent (two or more) epileptic seizures resulting from excessive and abnormal cortical neural activity.Fibroblasts were collected from a 10-year-old male with antecedent febrile seizures (PEFS+) and carrying a heterozygous A > G mutation of Nav1.1 α subunit gene. The induced USTCi001-A retained the mutation, expressed pluripotent markers, showed normal karyotype, and displayed in vitro differentiation potential toward cells of the three embryonic germ layers.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Heterozygote
Induced Pluripotent Stem Cells
Human skin
Neurological disorder
Biology
medicine.disease_cause
03 medical and health sciences
Epilepsy
0302 clinical medicine
medicine
Humans
Child
Gene
lcsh:QH301-705.5
Skin
Mutation
Karyotype
Cell Differentiation
Cell Biology
General Medicine
Fibroblasts
medicine.disease
In vitro
030104 developmental biology
lcsh:Biology (General)
Ipsc line
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 45
- Database :
- OpenAIRE
- Journal :
- Stem Cell Research
- Accession number :
- edsair.doi.dedup.....a49dc78d77b5955f38e65140df628c41