Home  |  Contact

Cellosaurus UNEWi005-A (CVCL_9S40)

[Text version]

Cell line name UNEWi005-A
Synonyms PRPF31 RH
Accession CVCL_9S40
Resource Identification Initiative To cite this cell line use: UNEWi005-A (RRID:CVCL_9S40)
Comments From: University of Newcastle; Newcastle; UK.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 15446; PRPF31; Simple; p.Arg372fs (c.1115_1125del11); ClinVar=VCV000004358; 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 Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

DOI=10.1101/232397
Buskin A., Zhu 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., Krasnogor N., Przyborski S., Al-Aama J.Y., Alharthi S., Xu Y., 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., 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)

Cross-references
Cell line collections EBiSC; UNEWi005-A
ECACC; 66540020
Cell line databases/resources hPSCreg; UNEWi005-A
SKIP; SKIP002472
Biological sample resources BioSamples; SAMEA3275904
Other Wikidata; Q54991155
Entry history
Entry creation23-Feb-2016
Last entry update20-May-2021
Version number9