Home  |  Contact

Cellosaurus NUIGi052-B (CVCL_YQ76)

[Text version]

Cell line name NUIGi052-B
Synonyms EP001C8
Accession CVCL_YQ76
Resource Identification Initiative To cite this cell line use: NUIGi052-B (RRID:CVCL_YQ76)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 6220; KCNA2; Simple; p.Leu290Arg (c.869T>G); ClinVar=VCV000985630; Zygosity=Heterozygous (PubMed=32540721).
Disease Early infantile epileptic encephalopathy 32 (NCIt: C155998)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YQ75 ! NUIGi052-A
CVCL_YQ77 ! NUIGi052-C
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=32540721; DOI=10.1016/j.scr.2020.101853
Arbini A., Gilmore J., King M.D., Gorman K.M., Krawczyk J., McInerney V., O'Brien T., Shen S.-B., Allen N.M.
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C).
Stem Cell Res. 46:101853-101853(2020)

Cross-references
Cell line databases/resources hPSCreg; NUIGi052-B
Biological sample resources BioSamples; SAMEA6724083
Other Wikidata; Q98128244
Entry history
Entry creation12-Mar-2020
Last entry update23-Sep-2021
Version number4