ID   NUIGi028-A
AC   CVCL_YC18
SY   RP002C12
DR   BioSamples; SAMEA6348710
DR   hPSCreg; NUIGi028-A
DR   Wikidata; Q98128192
RX   PubMed=31954326;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10294; RPE65; Simple; p.Asp477Gly (c.1430A>G); ClinVar=VCV000750796; Zygosity=Heterozygous (PubMed=31954326).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31954326; DOI=10.1016/j.scr.2019.101665;
RA   Ding, Yi-Cheng
RA   Carvalho, Eva
RA   Murphy, Cormac
RA   McInerney, Veronica
RA   Krawczyk, Janusz
RA   O'Brien, Timothy
RA   Howard, Linda
RA   Cai, Li
RA   Shen, San-Bing
RT   "Derivation of familial iPSC lines from three patients with retinitis
RT   pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A,
RT   NUIGi028-A, NUIGi029-A).";
RL   Stem Cell Res. 43:101665-101665(2020).
//