Cellosaurus cell line NUIGi027-A (CVCL

Cross-references
Cell line name	NUIGi027-A
Synonyms	RP001C8
Accession	CVCL_YC17
Resource Identification Initiative	To cite this cell line use: NUIGi027-A (RRID:CVCL_YC17)
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:10294; RPE65; Simple; p.Asp477Gly (c.1430A>G); ClinVar=VCV000750796; Zygosity=Heterozygous (PubMed=31954326).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	69Y
Category	Induced pluripotent stem cell
Publications	PubMed=31954326; DOI=10.1016/j.scr.2019.101665 Yi-Cheng Ding, Eva Carvalho, Cormac Murphy, Veronica McInerney, Janusz Krawczyk, Timothy O'Brien, Linda Howard, Li Cai, San-Bing Shen; Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A). Stem Cell Res. 43:101665-101665(2020)
Cell line databases/resources	hPSCreg; NUIGi027-A
Biological sample resources	BioSamples; SAMEA6298546
Encyclopedic resources	Wikidata; Q98128191
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8