Aug 2026· Stem Cell Research· Vol 95, pp.
104083
· 0 citations· 5 references
Medicine
TL;DR
iPSC is generated from two deletion patients (one with major depressive disorder, one with specific phobia) and three duplication patients (one with recurrent major depressive disorder, one with ADHD, one with autistic traits) to model pathogenesis in vitro.
Abstract
Copy number variations (deletions or duplications) in the 22q11.2 gene region are significantly correlated to a highly increased risk to develop mental disorder morbidity such as psychosis, attention-deficit/hyperactivity disorder (ADHD) or mood disorders. However, pathogenetic mechanisms are insufficiently understood. We generated iPSC from two deletion patients (one with major depressive disorder, one with specific phobia) and three duplication patients (one with recurrent major depressive disorder, one with ADHD, one with autistic traits). The iPSC lines represent a valuable resource to model pathogenesis in vitro.
The generation and characterization of two induced pluripotent stem cell lines are described, one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation and another derived from a patient carrying the heterozygous TBK1 c.2402A > T (p.His801Leu) variant of unknown significance.
Serena Santangelo, Veronica Casarotto, Lorenzo Campelli et al.· Stem Cell Research· 0 citations
This work describes the successful reprogramming of two human induced pluripotent stem cell (iPSC) lines originating from two independent ALS patients, both of whom carry a C9orf72 HRE mutation.
Di-De Wu, A. Kojic, Jay P. Ross et al.· Stem Cell Research· 0 citations
Induced pluripotent stem cell lines derived from two Marfan syndrome patients with mutations in the FBN1 gene exhibited typical iPSC morphology, normal karyotype, undifferentiated states, and trilineage differentiation capacity.
Byron W H Mui, M. Chorsi, Christopher D. Yan et al.· Stem Cell Research· 1 citation
Two isogenic induced pluripotent stem cell lines carrying homozygous LMNA variants are generated by prime editing of a healthy donor iPSC line, providing a valuable platform for functional characterization and potential clinical reclassification of LMNA VUS.
Lu Liu, David Wu, Amit Manhas et al.· Stem Cell Research· 0 citations
The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit to allow proper in vitro disease modelling of Kabuki syndrome 1.
Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease. Here, we established a human induced pluripotent stem cell (hiPSC) line from peripheral blood mono...
Jeeyoung Yoon, Y. Shin, Han-Bi Lee et al.· Stem Cell Research· 0 citations
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