ID   NIMHi013-A
AC   CVCL_D6J3
DR   BioSamples; SAMEA115577279
DR   hPSCreg; NIMHi013-A
DR   Wikidata; Q127382961
RX   PubMed=39383605;
CC   From: National Institute of Mental Health and Neurosciences; Bengaluru; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Glu1032Lys (c.3094G>A); ClinVar=VCV003242014; Zygosity=Heterozygous (PubMed=39383605).
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   9Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-04-25; Version: 3
//
RX   PubMed=39383605; DOI=10.1016/j.scr.2024.103573;
RA   Arunachal G., Nimonkar M.M., Mahadeva P., Sukrutha R., Raghavendra K.,
RA   Chetan G.K., Venkataswamy M.M., Mehta B., Markandeya Y.S.;
RT   "Generation of induced pluripotent stem cell line, NIMHi013-A, from
RT   PBMCs of a female child with epilepsy carrying a novel SCN1A variant.";
RL   Stem Cell Res. 81:103573-103573(2024).
//