ID   IDVi002-A
AC   CVCL_QY74
SY   PRPF31-4138-iPS; iPS-PRPF31-4138
DR   BioSamples; SAMEA994013
DR   hPSCreg; IDVi002-A
DR   Wikidata; Q54897304
RX   PubMed=29040912;
CC   From: Institut de la Vision; Paris; France.
CC   Sequence variation: Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Cys247Ter (c.709_734dup); Zygosity=Heterozygous (PubMed=29040912).
CC   Misspelling: IDVi0002-A; Note=In Cellosaurus release 25.
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   Male
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=29040912; DOI=10.1016/j.scr.2017.10.007;
RA   Terray A., Fort V., Slembrouck-Brec A., Nanteau C., Sahel J.-A.,
RA   Reichman S., Audo I., Goureau O.;
RT   "Establishment of an induced pluripotent stem (iPS) cell line from
RT   dermal fibroblasts of an asymptomatic patient with dominant PRPF31
RT   mutation.";
RL   Stem Cell Res. 25:26-29(2017).
//