Cellosaurus cell line KUi012-A-1 (CVCL

Cross-references
Cell line name	KUi012-A-1
Synonyms	JM09 GC
Accession	CVCL_D6PE
Resource Identification Initiative	To cite this cell line use: KUi012-A-1 (RRID:CVCL_D6PE)
Comments	From: University of Copenhagen; Copenhagen; Denmark. Omics: SNP array analysis. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 4084; GABRD; Simple_corrected; p.Thr291Ile (c.872C>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38458029).
Disease	Susceptibility to idiopathic generalized epilepsy-10 (NCIt: C206526) Generalized epilepsy with febrile seizures-plus (ORDO: Orphanet_36387)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_D6PD (KUi012-A)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=38458029; DOI=10.1016/j.scr.2024.103372 Kamand M., Taleb R., Wathikthinnakon M., Mohamed F.A., Ghazanfari S.P., Konstantinov D., Hald J.L., Holst B., Brasch-Andersen C., Moller R.S., Lemke J.R., Krey I., Freude K.K., Chandrasekaran A. Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy. Stem Cell Res. 76:103372-103372(2024)
Cell line databases/resources	hPSCreg; KUi013-A-1
Biological sample resources	BioSamples; SAMEA114438234
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Sep-2024
Version number	1