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Cellosaurus NUIGi059-C (CVCL_C6RV)

[Text version]
Cell line name NUIGi059-C
Synonyms EP2001 C8
Accession CVCL_C6RV
Resource Identification Initiative To cite this cell line use: NUIGi059-C (RRID:CVCL_C6RV)
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.Ala294Val (c.881C>T); ClinVar=VCV000205886; Zygosity=Heterozygous (PubMed=37659345).
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_C6RT ! NUIGi059-A
CVCL_C6RU ! NUIGi059-B
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=37659345; DOI=10.1016/j.scr.2023.103191
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.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C).
Stem Cell Res. 71:103191-103191(2023)

Cross-references
Cell line databases/resources hPSCreg; NUIGi059-C
Biological sample resources BioSamples; SAMEA111454680
Encyclopedic resources Wikidata; Q117704743
Entry history
Entry creation21-Mar-2023
Last entry update05-Oct-2023
Version number3