Cellosaurus cell line KUi013-A-1 (CVCL

Cellosaurus KUi013-A-1 (CVCL_D6PG)

Cross-references
Cell line name	KUi013-A-1
Synonyms	SK GC
Accession	CVCL_D6PG
Resource Identification Initiative	To cite this cell line use: KUi013-A-1 (RRID:CVCL_D6PG)
Comments	From: University of Copenhagen; Copenhagen; Denmark. Omics: Variations; SNP array analysis. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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_D6PF (KUi013-A)
Sex of cell	Female
Age at sampling	37Y
Category	Induced pluripotent stem cell
Publications	PubMed=38458029; DOI=10.1016/j.scr.2024.103372 Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Denis Konstantinov, Jonas Laugard Hald, Bjorn Holst, Charlotte Brasch-Andersen, Rikke Steensbjerre Moller, Johannes R. Lemke ...Show all 14 authors... , Ilona Krey, Kristine Karla Freude, Abinaya Chandrasekaran; Show fewer authors 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; SAMEA114440046
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Apr-2025
Version number	3