Cellosaurus cell line UNEWi005-A (CVCL

Cellosaurus UNEWi005-A (CVCL_9S40)

Cross-references
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; United Kingdom. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Arg372Glnfs*99 (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.-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.B., 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., Luhrmann 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 (Providers)	EBiSC; UNEWi005-A ECACC; 66540020 - Discontinued
Cell line databases/resources	hPSCreg; UNEWi005-A SKIP; SKIP002472
Biological sample resources	BioSamples; SAMEA3275904
Encyclopedic resources	Wikidata; Q54991155
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	15