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


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ben-Haim Y, Armon L, Fichtman B, Epshtein I, Spiegel R, Harel A, Urbach A
Journal Stem cell research
Publication Date 2021 Oct;56:102539
PubMed 34560421
DOI 10.1016/j.scr.2021.102539

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