Cellosaurus cell line NUIGi052-C (CVCL

Cellosaurus NUIGi052-C (CVCL_YQ77)

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; NUIGi052-C
Biological sample resources	BioSamples; SAMEA6722849
Encyclopedic resources	Wikidata; Q98128246
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9