Cellosaurus cell line IDVi001-A (CVCL

Cross-references
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; 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 Angelique Terray, Amelie Slembrouck-Brec, Celine Nanteau, Christel Chondroyer, Christina Zeitz, Jose-Alain Sahel, Isabelle Audo, Sacha Reichman, Olivier Goureau; 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)
Cell line databases/resources	hPSCreg; IDVi001-A
Biological sample resources	BioSamples; SAMEA994012
Encyclopedic resources	Wikidata; Q54897303
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	11