ID   UNEWi004-A
AC   CVCL_9S39
SY   PRPF31 SH
DR   BioSamples; SAMEA3275846
DR   EBiSC; UNEWi004-A
DR   ECACC; 66540017
DR   hPSCreg; UNEWi004-A
DR   SKIP; SKIP002471
DR   Wikidata; Q54991154
RX   DOI=10.1101/232397;
CC   From: University of Newcastle; Newcastle; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Arg372Glnfs*99 (c.1115_1125del11); ClinVar=VCV000004358; Zygosity=Heterozygous (DOI=10.1101/232397).
CC   Discontinued: ECACC; 66540017; 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   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 15
//
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.B.,
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).
//