Cellosaurus cell line NIMHi013-A (CVCL

Cross-references
Cell line name	NIMHi013-A
Accession	CVCL_D6J3
Resource Identification Initiative	To cite this cell line use: NIMHi013-A (RRID:CVCL_D6J3)
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.Glu1032Lys (c.3094G>A); ClinVar=VCV003242014; Zygosity=Heterozygous (PubMed=39383605).
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	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=39383605; DOI=10.1016/j.scr.2024.103573 Arunachal G., Nimonkar M.M., Mahadeva P., Sukrutha R., Raghavendra K., Chetan G.K., Venkataswamy M.M., Mehta B., Markandeya Y.S. Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant. Stem Cell Res. 81:103573-103573(2024)
Cell line databases/resources	hPSCreg; NIMHi013-A
Biological sample resources	BioSamples; SAMEA115577279
Encyclopedic resources	Wikidata; Q127382961
Entry history
Entry creation	02-May-2024
Last entry update	10-Apr-2025
Version number	3