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Cellosaurus IDVi003-A-4 (CVCL_C9J4)

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Cell line name IDVi003-A-4
Synonyms IDVi003-A_CR13; ITM2B-5286-3_CR13
Accession CVCL_C9J4
Resource Identification Initiative To cite this cell line use: IDVi003-A-4 (RRID:CVCL_C9J4)
Comments From: Institut de la Vision; Paris; France.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6174; ITM2B; Simple_corrected; p.Glu261Ala (c.782A>C); ClinVar=VCV000157606; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37473460).
Disease Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (NCIt: C168587)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (ORDO: Orphanet_397758)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_XJ40 (IDVi003-A)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=37473460; DOI=10.1016/j.scr.2023.103166
Tasnim Ben Yacoub, Camille Letellier, Juliette Wohlschlegel, Christel Condroyer, Amelie Slembrouck-Brec, Olivier Goureau, Christina Zeitz, Isabelle Audo;
Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9.
Stem Cell Res. 71:103166-103166(2023)

Cross-references
Cell line databases/resources hPSCreg; IDVi003-A-4
Encyclopedic resources Wikidata; Q123032663
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3