ID   NIMHi014-A
AC   CVCL_D6J4
DR   BioSamples; SAMEA115598640
DR   hPSCreg; NIMHi014-A
DR   Wikidata; Q127382962
RX   PubMed=39923287;
CC   From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Tyr1374Ter (c.4122C>G); ClinVar=VCV002664188; Zygosity=Heterozygous (PubMed=39923287).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=39923287; DOI=10.1016/j.scr.2025.103672;
RA   Nimonkar M.M., Arunachal G., Kotambail A., Sukrutha R., Raghavendra K.,
RA   Chetan G.K., Mehta B., Markandeya Y.S.;
RT   "An induced pluripotent stem cell line, NIMHi014-A, generated from
RT   PBMCs of an epileptic patient harbouring a variant of the SCN1A gene.";
RL   Stem Cell Res. 84:103672-103672(2025).
//