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Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.
Amprou A, Yacoub TB, Letellier C, Degaetano V, Méjécase C, Pormehr LA, Condroyer C, Slembrouck-Brec A, Wohlschlegel J, Goureau O, Zeitz C, Audo I. Amprou A, et al. Stem Cell Res. 2024 Dec;81:103558. doi: 10.1016/j.scr.2024.103558. Epub 2024 Sep 11. Stem Cell Res. 2024. PMID: 39293306 Free article.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: amprou a. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016/j.gim.2024.101081. Epub 2024 Jan 28. Genet Med. 2024. PMID: 38293907 Free article.