ID   UNEWi002-A
AC   CVCL_9S38
SY   PRPF31 AW; UNEW002Ai
DR   BioSamples; SAMEA2629491
DR   EBiSC; UNEWi002-A
DR   ECACC; 66540040
DR   hPSCreg; UNEWi002-A
DR   SKIP; SKIP002469
DR   Wikidata; Q54991152
CC   From: University of Newcastle; Newcastle; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 15446; PRPF31; Simple; c.522_527del6+IVS6+1_+10del10; Zygosity=Heterozygous (EBiSC=UNEWi002-A).
CC   Discontinued: ECACC; 66540040; 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   Female
AG   50-54Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 13
//