Cellosaurus cell line NUIGi059-C (CVCL

Cellosaurus NUIGi059-C (CVCL_C6RV)

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; NUIGi059-C
Biological sample resources	BioSamples; SAMEA111454680
Encyclopedic resources	Wikidata; Q117704743
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4