ID   FINi102-A
AC   CVCL_E3WT
SY   FI.SP.KCNT1(R950Q/+).NGF026; FI.SP.KCNT1(R950Q/+).NGF026C3
DR   hPSCreg; FINi102-A
RX   PubMed=40912205;
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18865; KCNT1; Simple; p.Arg950Gln (c.2849G>A); ClinVar=VCV000286710; Zygosity=Heterozygous (PubMed=40912205).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188141; Developmental and epileptic encephalopathy 14
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 27-11-25; Version: 2
//
RX   PubMed=40912205; DOI=10.1016/j.scr.2025.103826;
RA   Ovchinnikov, Dmitry A.
RA   Jong, Sharon
RA   Mullen, Saul A.
RA   West, Justin
RA   Maljevic, Snezana
RA   Petrou, Steven
RT   "An iPSC line (FINi102-A) carrying a heterozygous R950Q variant in
RT   KCNT1 from a boy with early-onset epilepsy.";
RL   Stem Cell Res. 88:103826-103826(2025).
//