Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene

Yam Ben-Haim; Leah Armon; Boris Fichtman; Irina Epshtein; Ronen Spiegel; Amnon Harel; Achia Urbach

doi:10.1016/j.scr.2021.102539

Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene

Yam Ben-Haim, Leah Armon, Boris Fichtman, Irina Epshtein, Ronen Spiegel, Amnon Harel, Achia Urbach

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

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Abstract

LAP1 is an inner nuclear membrane protein encoded by TOR1AIP1. A homozygous c.961C > T loss of function mutation in TOR1AIP1 that affects both isoforms of LAP1 was recently described. This mutation leads to the development of a severe multisystemic nuclear envelopathy syndrome. Here we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines derived from skin fibroblasts of two patients carrying the homozygous c.961C > T mutation. These novel lines can be used as a powerful tool to investigate the molecular mechanism by which LAP1 deficiency leads to the development of this severe hereditary disorder.

Original language	English
Article number	102539
Journal	Stem Cell Research
Volume	56
DOIs	https://doi.org/10.1016/j.scr.2021.102539
State	Published - Oct 2021

Bibliographical note

Publisher Copyright:
© 2021 The Author(s)

Funding

This project was partially supported by research grants from the Christians for Israel Chair in Medical Research to A.U.

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10.1016/j.scr.2021.102539

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abstract = "LAP1 is an inner nuclear membrane protein encoded by TOR1AIP1. A homozygous c.961C > T loss of function mutation in TOR1AIP1 that affects both isoforms of LAP1 was recently described. This mutation leads to the development of a severe multisystemic nuclear envelopathy syndrome. Here we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines derived from skin fibroblasts of two patients carrying the homozygous c.961C > T mutation. These novel lines can be used as a powerful tool to investigate the molecular mechanism by which LAP1 deficiency leads to the development of this severe hereditary disorder.",

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AU - Ben-Haim, Yam

AU - Armon, Leah

AU - Fichtman, Boris

AU - Epshtein, Irina

AU - Spiegel, Ronen

AU - Harel, Amnon

AU - Urbach, Achia

PY - 2021/10

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AB - LAP1 is an inner nuclear membrane protein encoded by TOR1AIP1. A homozygous c.961C > T loss of function mutation in TOR1AIP1 that affects both isoforms of LAP1 was recently described. This mutation leads to the development of a severe multisystemic nuclear envelopathy syndrome. Here we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines derived from skin fibroblasts of two patients carrying the homozygous c.961C > T mutation. These novel lines can be used as a powerful tool to investigate the molecular mechanism by which LAP1 deficiency leads to the development of this severe hereditary disorder.

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Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene

Abstract

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