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Cellosaurus IDVi003-C (CVCL_XJ42)

[Text version]
Cell line name IDVi003-C
Synonyms ITM2B-5286-19
Accession CVCL_XJ42
Resource Identification Initiative To cite this cell line use: IDVi003-C (RRID:CVCL_XJ42)
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; 6174; ITM2B; Simple; p.Glu261Ala (c.782A>C); ClinVar=VCV000157606; Zygosity=Heterozygous (PubMed=31731182).
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)
Originate from same individual CVCL_XJ40 ! IDVi003-A
CVCL_XJ41 ! IDVi003-B
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=31731182; DOI=10.1016/j.scr.2019.101625
Wohlschlegel J., Letellier C., Liu B.-Q., Mejecase C., Slembrouck-Brec A., Condroyer C., Michiels C., Sahel J.-A., Reichman S., Zeitz C., Goureau O., Audo I.
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.
Stem Cell Res. 41:101625-101625(2019)

Cross-references
Cell line databases/resources hPSCreg; IDVi003-C
Encyclopedic resources Wikidata; Q94314317
Entry history
Entry creation19-Dec-2019
Last entry update05-Oct-2023
Version number9