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Cellosaurus UNEWi001-A (CVCL_9S37)

[Text version]
Cell line name UNEWi001-A
Synonyms PRPF31 iPSC; UNEW001Ai
Accession CVCL_9S37
Resource Identification Initiative To cite this cell line use: UNEWi001-A (RRID:CVCL_9S37)
Comments From: University of Newcastle; Newcastle; United Kingdom.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 15446; PRPF31; Simple; c.522_527del6+IVS6+1_+10del10; Zygosity=Heterozygous (DOI=10.1101/232397).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell

Buskin A., Zhu L.-L., Chichagova V., Basu B., Mozaffari-Jovin S., Dolan D., Droop A., Collin J., Bronstein R., Mehrotra S., Farkas M., Hilgen G., White K., Hallam D., Bialas K., Chung G., Mellough C., Ding Y.-C., Krasnogor N., Przyborski S., Al-Aama J.Y., Alharthi S., Xu Y.-B., Wheway G., Szymanska K., McKibbin M., Inglehearn C.F., Elliott D.J., Lindsay S., Ali R.R., Steel D.H., Armstrong L., Sernagor E., Pierce E.A., Luehrmann R., Grellscheid S.-N., Johnson C.A., Lako M.
Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa.
bioRxiv 2017:232397-232397(2017)

Cell line collections EBiSC; UNEWi001-A
ECACC; 66540039
Cell line databases/resources hPSCreg; UNEWi001-A
SKIP; SKIP002468
Biological sample resources BioSamples; SAMEA2629641
Encyclopedic resources Wikidata; Q54991151
Entry history
Entry creation23-Feb-2016
Last entry update17-Mar-2022
Version number11