Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene
We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. Thi...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612500159X |
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| author | Madhura Milind Nimonkar Ramya Sukrutha Kenchaiah Raghavendra Hansashree Padmanabha Ghati K. Chetan Bhupesh Mehta Yogananda S. Markandeya Gautham Arunachal |
| author_facet | Madhura Milind Nimonkar Ramya Sukrutha Kenchaiah Raghavendra Hansashree Padmanabha Ghati K. Chetan Bhupesh Mehta Yogananda S. Markandeya Gautham Arunachal |
| author_sort | Madhura Milind Nimonkar |
| collection | DOAJ |
| description | We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. This cell line will serve as a platform to investigate the disease mechanism and develop novel patient-specific therapeutic strategies. |
| format | Article |
| id | doaj-art-e292a17f6a4d4026a0999936dfbc47d1 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-e292a17f6a4d4026a0999936dfbc47d12025-08-23T04:47:57ZengElsevierStem Cell Research1873-50612025-10-018810380910.1016/j.scr.2025.103809Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A geneMadhura Milind Nimonkar0Ramya Sukrutha1Kenchaiah Raghavendra2Hansashree Padmanabha3Ghati K. Chetan4Bhupesh Mehta5Yogananda S. Markandeya6Gautham Arunachal7Department of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, IndiaDepartment of Biophysics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India; Corresponding authors.Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India; Corresponding authors.We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. This cell line will serve as a platform to investigate the disease mechanism and develop novel patient-specific therapeutic strategies.http://www.sciencedirect.com/science/article/pii/S187350612500159X |
| spellingShingle | Madhura Milind Nimonkar Ramya Sukrutha Kenchaiah Raghavendra Hansashree Padmanabha Ghati K. Chetan Bhupesh Mehta Yogananda S. Markandeya Gautham Arunachal Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene Stem Cell Research |
| title | Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene |
| title_full | Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene |
| title_fullStr | Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene |
| title_full_unstemmed | Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene |
| title_short | Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene |
| title_sort | characterisation of the induced pluripotent stem cell line nimhi012 a derived from pbmcs of an epilepsy patient with a pathogenic variant in scn1a gene |
| url | http://www.sciencedirect.com/science/article/pii/S187350612500159X |
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