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Cellosaurus NIMHi012-A (CVCL_D6J2)

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Cell line name NIMHi012-A
Accession CVCL_D6J2
Resource Identification Initiative To cite this cell line use: NIMHi012-A (RRID:CVCL_D6J2)
Comments From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
Population: Indian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Ile227Thr (c.680T>C); ClinVar=VCV000930374; Zygosity=Heterozygous; Note=De novo mutation (PubMed=40848398).
Disease Febrile seizures, familial, 3A (NCIt: C176016)
Generalized epilepsy with febrile seizures-plus (ORDO: Orphanet_36387)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1-2Y
Category Induced pluripotent stem cell
Publications

PubMed=40848398; DOI=10.1016/j.scr.2025.103809
Madhura Milind Nimonkar, Ramya Sukrutha, Kenchaiah Raghavendra, Hansashree Padmanabha, Ghati Kasturirangan 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 Res. 88:103809-103809(2025)

Cross-references
Cell line databases/resources hPSCreg; NIMHi012-A
Biological sample resources BioSamples; SAMEA117610314
Encyclopedic resources Wikidata; Q127382959
Entry history
Entry creation02-May-2024
Last entry update27-Nov-2025
Version number4