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Cellosaurus NUIGi063-A (CVCL_C6S5)

[Text version]
Cell line name NUIGi063-A
Synonyms EP2003 C2
Accession CVCL_C6S5
Resource Identification Initiative To cite this cell line use: NUIGi063-A (RRID:CVCL_C6S5)
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; 6296; KCNQ2; Simple; p.Arg213Gln (c.638C>T); ClinVar=VCV000039760; Zygosity=Heterozygous (PubMed=37071954).
Disease Developmental and epileptic encephalopathy 7 (NCIt: C192087)
KCNQ2-related epileptic encephalopathy (ORDO: Orphanet_439218)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C6S6 ! NUIGi063-B
CVCL_C6S7 ! NUIGi063-C
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell

PubMed=37071954; DOI=10.1016/j.scr.2023.103093
Stewart R., Gadoud C., Krawczyk J., McInerney V., O'Brien T., Shen S.-B., Allen N.M.
Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C).
Stem Cell Res. 69:103093-103093(2023)

Cell line databases/resources hPSCreg; NUIGi063-A
Biological sample resources BioSamples; SAMEA112150353
Encyclopedic resources Wikidata; Q117704753
Entry history
Entry creation21-Mar-2023
Last entry update05-Oct-2023
Version number3