Navigation auf zora.uzh.ch

Search ZORA

ZORA (Zurich Open Repository and Archive)

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

Fekadu-Siebald, Julia; Fuchs, Nina V; Zahn, Stella; Rommel, Marcel G E; Schenk, Franziska; Huenecke, Sabine; Bremm, Melanie; Kreyenberg, Hermann; Kuci, Zyrafete; Jacobsen, Eva-Maria; Hoenig, Manfred; Schwarz, Klaus; Bader, Peter; Modlich, Ute; König, Renate; Bakhtiar, Shahrzad (2024). 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. Stem Cell Research, 81:103598.

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.

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute for Regenerative Medicine (IREM)
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Developmental Biology
Life Sciences > Cell Biology
Language:English
Date:December 2024
Deposited On:30 Dec 2024 10:47
Last Modified:30 Apr 2025 01:37
Publisher:Elsevier
ISSN:1873-5061
OA Status:Gold
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/j.scr.2024.103598
PubMed ID:39522300
Download PDF  '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'.
Preview
  • Content: Published Version
  • Language: English
  • Licence: Creative Commons: Attribution 4.0 International (CC BY 4.0)

Metadata Export

Statistics

Citations

Altmetrics

Downloads

5 downloads since deposited on 30 Dec 2024
5 downloads since 12 months
Detailed statistics

Authors, Affiliations, Collaborations

Similar Publications