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Cellosaurus IDVi001-A (CVCL_QX82)

[Text version]
Cell line name IDVi001-A
Synonyms NR2E3-86-iPS; iPS-NR2E3-86
Accession CVCL_QX82
Resource Identification Initiative To cite this cell line use: IDVi001-A (RRID:CVCL_QX82)
Comments From: Institut de la Vision; Paris; France.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7974; NR2E3; Simple; p.Gly56Arg (c.166G>A); ClinVar=VCV000005533; Zygosity=Heterozygous (PubMed=29034877).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=29034877; DOI=10.1016/j.scr.2017.08.003
Terray A., Slembrouck-Brec A., Nanteau C., Chondroyer C., Zeitz C., Sahel J.-A., Audo I., Reichman S., Goureau O.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Stem Cell Res. 24:1-4(2017)

Cross-references
Cell line databases/resources hPSCreg; IDVi001-A
Biological sample resources BioSamples; SAMEA994012
Encyclopedic resources Wikidata; Q54897303
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10