ID   UNEWi005-A
AC   CVCL_9S40
SY   PRPF31 RH
DR   BioSamples; SAMEA3275904
DR   EBiSC; UNEWi005-A
DR   ECACC; 66540020
DR   hPSCreg; UNEWi005-A
DR   SKIP; SKIP002472
DR   Wikidata; Q54991155
RX   DOI=10.1101/232397;
CC   From: University of Newcastle; Newcastle; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 15446; PRPF31; Simple; p.Arg372Glnfs*99 (c.1115_1125del11); ClinVar=VCV000004358; Zygosity=Heterozygous (DOI=10.1101/232397).
CC   Discontinued: ECACC; 66540020; 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   52Y
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).
//