1. Eight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene.
- Author
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Fekadu-Siebald J, Fuchs NV, Zahn S, Rommel MGE, Schenk F, Huenecke S, Bremm M, Kreyenberg H, Kuci Z, Jacobsen EM, Hoenig M, Schwarz K, Bader P, Modlich U, König R, and Bakhtiar S
- Subjects
- Humans, Male, Cell Line, Female, Induced Pluripotent Stem Cells metabolism, Leukocyte-Adhesion Deficiency Syndrome genetics, CD18 Antigens genetics, CD18 Antigens metabolism, Mutation
- Abstract
Leukocyte Adhesion Deficiency Type I (LAD I) is a rare inborn error of immunity caused by mutations in the ITGB2 gene coding for β2-integrin CD18 on the surface of leukocytes. Affected patients display severe clinical manifestations with life threatening infections and inflammatory complications due to an impaired ability of leukocytes to transmigrate from the blood vessel to the tissue. Here we describe the generation of eight induced pluripotent stem cell lines from two patients with LAD I and mutations in the ITGB2 gene. With this project we contribute patient individualized cell lines for explorative research in a rare disease., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
- Published
- 2024
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