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Cellosaurus NUIGi052-C (CVCL_YQ77)

[Text version]
Cell line name NUIGi052-C
Synonyms EP001C15
Accession CVCL_YQ77
Resource Identification Initiative To cite this cell line use: NUIGi052-C (RRID:CVCL_YQ77)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6220; KCNA2; Simple; p.Leu290Arg (c.869T>G); ClinVar=VCV000985630; Zygosity=Heterozygous (PubMed=32540721).
Disease Developmental and 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_YQ76 ! NUIGi052-B
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-C
Biological sample resources BioSamples; SAMEA6722849
Encyclopedic resources Wikidata; Q98128246
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8