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Cellosaurus KUi013-A (CVCL_D6PF)

[Text version]
Cell line name KUi013-A
Synonyms SK
Accession CVCL_D6PF
Resource Identification Initiative To cite this cell line use: KUi013-A (RRID:CVCL_D6PF)
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; HGNC:4084; GABRD; Simple; p.Thr291Ile (c.872C>T); Zygosity=Heterozygous; Note=De novo mutation (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 Children:
CVCL_D6PG (KUi013-A-1)
Sex of cell Female
Age at sampling 37Y
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)

Cross-references
Cell line databases/resources hPSCreg; KUi013-A
Biological sample resources BioSamples; SAMEA114440045
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2