ID   NUIGi029-A
AC   CVCL_YC19
SY   RP003C12
DR   BioSamples; SAMEA6348712
DR   hPSCreg; NUIGi029-A
DR   Wikidata; Q98128194
RX   PubMed=31954326;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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: 29-06-23; Version: 7
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RX   PubMed=31954326; DOI=10.1016/j.scr.2019.101665;
RA   Ding Y.-C., Carvalho E., Murphy C., McInerney V., Krawczyk J.,
RA   O'Brien T., Howard L., Cai L., Shen S.-B.;
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).
//