Cellosaurus cell line NUIGi063-A (CVCL

Cellosaurus NUIGi063-A (CVCL_C6S5)

Cross-references
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; 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
Publications	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 creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4