Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder

Daniel J. Steinberg; Kian Maroun; Srinivasarao Repudi; Bruria Ben-Zeev; Rami I. Aqeilan

doi:10.1016/j.scr.2025.103667

Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder

Daniel J. Steinberg, Kian Maroun, Srinivasarao Repudi, Bruria Ben-Zeev, Rami I. Aqeilan^*

^*Corresponding author for this work

Department of Immunology and Cancer Research

Research output: Contribution to journal › Article › peer-review

Abstract

Insufficient β-catenin gene activity leads to CTNNB1 neurodevelopmental disorder (CTNNB1-NDD), a prevalent condition causing diverse neurological effects. We derived induced pluripotent stem cell (iPSC) lines from two CTNNB1-NDD individuals. Comprehensive analysis, including karyotyping, sequencing, and functional assays, verified the stem cell properties, genomic stability, identity, and differentiation capabilities. Notably, variable protein expression levels were observed, hinting at potential functional irregularities. in this study we offer valuable groundwork for future research in the field.

Original language	English
Article number	103667
Journal	Stem Cell Research
Volume	83
DOIs	https://doi.org/10.1016/j.scr.2025.103667
State	Published - Mar 2025

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© 2025 The Author(s)

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title = "Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder",

abstract = "Insufficient β-catenin gene activity leads to CTNNB1 neurodevelopmental disorder (CTNNB1-NDD), a prevalent condition causing diverse neurological effects. We derived induced pluripotent stem cell (iPSC) lines from two CTNNB1-NDD individuals. Comprehensive analysis, including karyotyping, sequencing, and functional assays, verified the stem cell properties, genomic stability, identity, and differentiation capabilities. Notably, variable protein expression levels were observed, hinting at potential functional irregularities. in this study we offer valuable groundwork for future research in the field.",

author = "Steinberg, {Daniel J.} and Kian Maroun and Srinivasarao Repudi and Bruria Ben-Zeev and Aqeilan, {Rami I.}",

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doi = "10.1016/j.scr.2025.103667",

language = "אנגלית",

volume = "83",

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Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder. / Steinberg, Daniel J.; Maroun, Kian; Repudi, Srinivasarao et al.
In: Stem Cell Research, Vol. 83, 103667, 03.2025.

Research output: Contribution to journal › Article › peer-review

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AU - Repudi, Srinivasarao

AU - Ben-Zeev, Bruria

AU - Aqeilan, Rami I.

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AB - Insufficient β-catenin gene activity leads to CTNNB1 neurodevelopmental disorder (CTNNB1-NDD), a prevalent condition causing diverse neurological effects. We derived induced pluripotent stem cell (iPSC) lines from two CTNNB1-NDD individuals. Comprehensive analysis, including karyotyping, sequencing, and functional assays, verified the stem cell properties, genomic stability, identity, and differentiation capabilities. Notably, variable protein expression levels were observed, hinting at potential functional irregularities. in this study we offer valuable groundwork for future research in the field.

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Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder

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