Cellosaurus cell line NUIGi052-A (CVCL

Cellosaurus NUIGi052-A (CVCL_YQ75)

Cross-references
Cell line name	NUIGi052-A
Synonyms	EP001C1
Accession	CVCL_YQ75
Resource Identification Initiative	To cite this cell line use: NUIGi052-A (RRID:CVCL_YQ75)
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_YQ76 ! NUIGi052-B CVCL_YQ77 ! NUIGi052-C
Sex of cell	Female
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=32540721; DOI=10.1016/j.scr.2020.101853 Alessia Arbini, James Gilmore, Mary D. King, Kathleen M. Gorman, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, San-Bing Shen, Nicholas Mark Allen; 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-A
Biological sample resources	BioSamples; SAMEA6724082
Encyclopedic resources	Wikidata; Q98128243
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9