Cellosaurus logo
expasy logo

Cellosaurus (CVCL_5145)

[Text version]
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_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




Toxicol. Sci. 147:412-424(2015)

Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2