Cellosaurus cell line NIMHi014-A (CVCL

Cross-references
Cell line name	NIMHi014-A
Accession	CVCL_D6J4
Resource Identification Initiative	To cite this cell line use: NIMHi014-A (RRID:CVCL_D6J4)
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.Tyr1374Ter (c.4122C>G); ClinVar=VCV002664188; Zygosity=Heterozygous (PubMed=39923287).
Disease	Developmental and epileptic encephalopathy 6A (NCIt: C147071) Dravet syndrome (ORDO: Orphanet_33069)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=39923287; DOI=10.1016/j.scr.2025.103672 Nimonkar M.M., Arunachal G., Kotambail A., Sukrutha R., Raghavendra K., Chetan G.K., Mehta B., Markandeya Y.S. An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene. Stem Cell Res. 84:103672-103672(2025)
Cell line databases/resources	hPSCreg; NIMHi014-A
Biological sample resources	BioSamples; SAMEA115598640
Encyclopedic resources	Wikidata; Q127382962
Entry history
Entry creation	02-May-2024
Last entry update	10-Apr-2025
Version number	3