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Cellosaurus IDVi002-A (CVCL_QY74)

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Cell line name IDVi002-A
Synonyms PRPF31-4138-iPS; iPS-PRPF31-4138
Accession CVCL_QY74
Resource Identification Initiative To cite this cell line use: IDVi002-A (RRID:CVCL_QY74)
Comments From: Institut de la Vision; Paris; France.
Misspelling: IDVi0002-A; Note=In Cellosaurus release 25.
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.Cys247Ter (c.709_734dup); Zygosity=Heterozygous (PubMed=29040912).
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 75Y
Category Induced pluripotent stem cell
Publications

PubMed=29040912; DOI=10.1016/j.scr.2017.10.007
Angelique Terray, Victoire Fort, Amelie Slembrouck-Brec, Celine Nanteau, Jose-Alain Sahel, Sacha Reichman, Isabelle Audo, Olivier Goureau;
Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
Stem Cell Res. 25:26-29(2017)

Cross-references
Cell line databases/resources hPSCreg; IDVi002-A
Biological sample resources BioSamples; SAMEA994013
Encyclopedic resources Wikidata; Q54897304
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9