Aug 2026· Stem Cell Research· Vol 95, pp.
104090
· 0 citations· 12 references
Medicine
TL;DR
A human induced pluripotent stem cell line TRNDi045-A-38 from the KOLF2.1J reference line is generated, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9, and could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.
Abstract
DOK7-related Congenital Myasthenic Syndrome (CMS) is a rare genetic neuromuscular junction disorder. This is one of the most common of the recessive forms of CMS, often presenting with more static proximal weakness (hence also referred to as limb girdle CMS). Whole-genome sequencing of affected patients implicates frameshift duplication mutations in DOK7 as drivers of impaired neuromuscular-junction signaling. In this study, we generated a human induced pluripotent stem cell (hiPSC) line TRNDi045-A-38 from the KOLF2.1J reference line, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9. This iPSC line could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.
We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stem...
Christianne J. Chua, D. DiSilvestre, Adriana Blazeski et al.· Stem Cell Research· 0 citations
Two patient-derived induced pluripotent stem cell lines generated from clinically diagnosed HHT donors carrying heterozygous ACVRL1 mutations show expected iPSC morphology, robust expression of markers of the undifferentiated iPSC state, genomic stability by LP-WGS, and tri-lineage differentiation capacity.
Mey-Sam Chörsi, Haley M. Fernandez, Ren-Ke Tan et al.· Stem Cell Research· 0 citations
Kabuki syndrome 1 is a rare genetic disorder typically characterized by facial abnormalities, cognitive impairment, developmental delay and organ dysfunction. It is caused by a loss-of-function mutation in the KMT2D gene. The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D ge...
This work generated and characterized the induced isogenic pluripotency stem cell control line generated by correcting the c.1824C > T mutation and excluded differences in genetic background while studying the pathophysiology of HGPS.
G. Lezzoche, Evangelia Ntotsia, S. Seyen et al.· Stem Cell Research· 0 citations
Two human induced pluripotent stem cell lines from a female FD patient carrying a heterozygous c.644A > G missense mutation provide a valuable resource for studying FD mechanisms and developing therapeutic strategies.
Nick Heise, Carla Borisch, Christopher Jahn et al.· Stem Cell Research· 0 citations
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
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