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Article

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

Stem cell research - 1 Oct 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 34560421
DOI: 10.1016/j.scr.2021.102539

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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