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Article

Generation of two CASK patient-derived human induced pluripotent stem cell lines to study CASK-related disorders.

Stem cell research - 1 Sept 2026

Veleva Desi, Chowdhury Mahfuz, Morrison Sean D, Prowse Andrew, Vadlamudi Lata, Thor Stefan, Wolvetang Ernst J, Pars Selin

Abstract excerpt

In this study, we report generation of human induced pluripotent stem cells (hiPSCs) from two calcium/calmodulin dependent serine protein kinase (CASK)-related disorder patients with intronic mutations in the CASK gene. Reprogramming of hiPSCs was done using peripheral blood mononuclear cells (PBMCs) as a cell source and Sendai virus for delivery of reprogramming factors. Generated hiPSC lines are a valuable tool...

Read the complete abstract on PubMed

Topics

Humans
Induced Pluripotent Stem Cells
Guanylate Kinases
Cell Line
Cellular Reprogramming
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Leukocytes, Mononuclear

Male

Source

Identifiers

PMID: 42400957
DOI: 10.1016/j.scr.2026.104051

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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