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

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 t...

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Bibliographic Details
Main Authors: Yam Ben-Haim, Leah Armon, Boris Fichtman, Irina Epshtein, Ronen Spiegel, Amnon Harel, Achia Urbach
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612100386X

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