ID   UNEWi027-A
AC   CVCL_IU00
SY   F116
DR   BioSamples; SAMEA4458542
DR   EBiSC; UNEWi027-A
DR   ECACC; 66540406
DR   hPSCreg; UNEWi027-A
DR   SKIP; SKIP002880
DR   Wikidata; Q54991232
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 (EBiSC=UNEWi027-A).
CC   Discontinued: ECACC; 66540406; 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   65-69Y
CA   Induced pluripotent stem cell
DT   Created: 03-03-17; Last updated: 30-01-24; Version: 12
//