Cellosaurus cell line FINi102-A (CVCL

Cross-references
Cell line name	FINi102-A
Synonyms	FI.SP.KCNT1(R950Q/+).NGF026; FI.SP.KCNT1(R950Q/+).NGF026C3
Accession	CVCL_E3WT
Resource Identification Initiative	To cite this cell line use: FINi102-A (RRID:CVCL_E3WT)
Comments	From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18865; KCNT1; Simple; p.Arg950Gln (c.2849G>A); ClinVar=VCV000286710; Zygosity=Heterozygous (PubMed=40912205).
Disease	Developmental and epileptic encephalopathy 14 (NCIt: C188141) Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=40912205; DOI=10.1016/j.scr.2025.103826 Dmitry A. Ovchinnikov, Sharon Jong, Saul A. Mullen, Justin West, Snezana Maljevic, Steven Petrou; An iPSC line (FINi102-A) carrying a heterozygous R950Q variant in KCNT1 from a boy with early-onset epilepsy. Stem Cell Res. 88:103826-103826(2025)
Cell line databases/resources	hPSCreg; FINi102-A
Entry history
Entry creation	19-Dec-2024
Last entry update	27-Nov-2025
Version number	2