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Cellosaurus NUIGi028-A (CVCL_YC18)

[Text version]
Cell line name NUIGi028-A
Synonyms RP002C12
Accession CVCL_YC18
Resource Identification Initiative To cite this cell line use: NUIGi028-A (RRID:CVCL_YC18)
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; 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 70Y
Category Induced pluripotent stem cell
Publications

PubMed=31954326; DOI=10.1016/j.scr.2019.101665
Ding Y.-C., Carvalho E., Murphy C., McInerney V., Krawczyk J., O'Brien T., Howard L., Cai L., Shen S.-B.
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)

Cross-references
Cell line databases/resources hPSCreg; NUIGi028-A
Biological sample resources BioSamples; SAMEA6348710
Encyclopedic resources Wikidata; Q98128192
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7