An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene
We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the NaV1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expres...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-04-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000224 |
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| author | Madhura Milind Nimonkar Gautham Arunachal Ananthapadmanabha Kotambail Ramya Sukrutha Kenchaiah Raghavendra Ghati K Chetan Bhupesh Mehta Yogananda S. Markandeya |
| author_facet | Madhura Milind Nimonkar Gautham Arunachal Ananthapadmanabha Kotambail Ramya Sukrutha Kenchaiah Raghavendra Ghati K Chetan Bhupesh Mehta Yogananda S. Markandeya |
| author_sort | Madhura Milind Nimonkar |
| collection | DOAJ |
| description | We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the NaV1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies. |
| format | Article |
| id | doaj-art-eb2d9d35aacb4d10b5373e3c29789f5f |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-eb2d9d35aacb4d10b5373e3c29789f5f2025-02-10T04:34:18ZengElsevierStem Cell Research1873-50612025-04-0184103672An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A geneMadhura Milind Nimonkar0Gautham Arunachal1Ananthapadmanabha Kotambail2Ramya Sukrutha3Kenchaiah Raghavendra4Ghati K Chetan5Bhupesh Mehta6Yogananda S. Markandeya7Department of Biophysics National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, IndiaDepartment of Human Genetics, 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.We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the NaV1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies.http://www.sciencedirect.com/science/article/pii/S1873506125000224 |
| spellingShingle | Madhura Milind Nimonkar Gautham Arunachal Ananthapadmanabha Kotambail Ramya Sukrutha Kenchaiah Raghavendra Ghati K Chetan Bhupesh Mehta Yogananda S. Markandeya An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene Stem Cell Research |
| title | An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene |
| title_full | An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene |
| title_fullStr | An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene |
| title_full_unstemmed | An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene |
| title_short | An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene |
| title_sort | induced pluripotent stem cell line nimhi014 a generated from pbmcs of an epileptic patient harbouring a variant of the scn1a gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000224 |
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