Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The v...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-12-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612400271X |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850062535496040448 |
|---|---|
| author | Gautham Arunachal Madhura Milind Nimonkar Pavithra Mahadeva Ramya Sukrutha Kenchaiah Raghavendra Ghati K. Chetan Manjunatha M. Venkataswamy Bhupesh Mehta Yogananda S. Markandeya |
| author_facet | Gautham Arunachal Madhura Milind Nimonkar Pavithra Mahadeva Ramya Sukrutha Kenchaiah Raghavendra Ghati K. Chetan Manjunatha M. Venkataswamy Bhupesh Mehta Yogananda S. Markandeya |
| author_sort | Gautham Arunachal |
| collection | DOAJ |
| description | The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro. |
| format | Article |
| id | doaj-art-deabda466fcf4e829b780cfbaf70fb00 |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-deabda466fcf4e829b780cfbaf70fb002025-08-20T02:49:53ZengElsevierStem Cell Research1873-50612024-12-018110357310.1016/j.scr.2024.103573Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variantGautham Arunachal0Madhura Milind Nimonkar1Pavithra Mahadeva2Ramya Sukrutha3Kenchaiah Raghavendra4Ghati K. Chetan5Manjunatha M. Venkataswamy6Bhupesh Mehta7Yogananda S. Markandeya8Department of Human Genetics, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Neurovirology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Neurovirology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India; Corresponding author.The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro.http://www.sciencedirect.com/science/article/pii/S187350612400271X |
| spellingShingle | Gautham Arunachal Madhura Milind Nimonkar Pavithra Mahadeva Ramya Sukrutha Kenchaiah Raghavendra Ghati K. Chetan Manjunatha M. Venkataswamy Bhupesh Mehta Yogananda S. Markandeya Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant Stem Cell Research |
| title | Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant |
| title_full | Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant |
| title_fullStr | Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant |
| title_full_unstemmed | Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant |
| title_short | Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant |
| title_sort | generation of induced pluripotent stem cell line nimhi013 a from pbmcs of a female child with epilepsy carrying a novel scn1a variant |
| url | http://www.sciencedirect.com/science/article/pii/S187350612400271X |
| work_keys_str_mv | AT gauthamarunachal generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT madhuramilindnimonkar generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT pavithramahadeva generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT ramyasukrutha generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT kenchaiahraghavendra generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT ghatikchetan generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT manjunathamvenkataswamy generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT bhupeshmehta generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant AT yoganandasmarkandeya generationofinducedpluripotentstemcelllinenimhi013afrompbmcsofafemalechildwithepilepsycarryinganovelscn1avariant |