Associated Papers
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.
Ben Yacoub T et al.
Stem Cell Research, 2023
First identification of ITM2B interactome in the human retina.
Wohlschlegel J et al.
Scientific Reports, 2021
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Nassisi M et al.
Retina (philadelphia, Pa.), 2021
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.
Wohlschlegel J et al.
Stem Cell Research, 2019
The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.
Giannoccaro MP et al.
Journal of Alzheimer's Disease : Jad, 2018
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I et al.
Human Molecular Genetics, 2014
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