ID   UNEWi001-A
AC   CVCL_9S37
SY   PRPF31 iPSC; UNEW001Ai
DR   BioSamples; SAMEA2629641
DR   EBiSC; UNEWi001-A
DR   ECACC; 66540039
DR   hPSCreg; UNEWi001-A
DR   SKIP; SKIP002468
DR   Wikidata; Q54991151
RX   DOI=10.1101/232397;
CC   From: University of Newcastle; Newcastle; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 15446; PRPF31; Simple; c.522_527del6+IVS6+1_+10del10; Zygosity=Heterozygous (DOI=10.1101/232397).
CC   Discontinued: ECACC; 66540039; true.
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   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
//
RX   DOI=10.1101/232397;
RA   Buskin A., Zhu L.-L., Chichagova V., Basu B., Mozaffari-Jovin S.,
RA   Dolan D., Droop A., Collin J., Bronstein R., Mehrotra S., Farkas M.,
RA   Hilgen G., White K., Hallam D., Bialas K., Chung G., Mellough C.,
RA   Ding Y.-C., Krasnogor N., Przyborski S., Al-Aama J.Y., Alharthi S.,
RA   Xu Y.-B., Wheway G., Szymanska K., McKibbin M., Inglehearn C.F.,
RA   Elliott D.J., Lindsay S., Ali R.R., Steel D.H., Armstrong L.,
RA   Sernagor E., Pierce E.A., Luhrmann R., Grellscheid S.-N.,
RA   Johnson C.A., Lako M.;
RT   "Human iPSC-derived RPE and retinal organoids reveal impaired
RT   alternative splicing of genes involved in pre-mRNA splicing in PRPF31
RT   autosomal dominant retinitis pigmentosa.";
RL   bioRxiv 2017:232397-232397(2017).
//