Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene
Year: 2023
Type: article
Abstract: Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death. Here we generated two iPSC lines from two SMA type I patients with homozygous SMN1 mutations and validated the pluripotency and the ability to differentiate into three germ layers. The iPSC lines can be applied to generate skeletal muscles to model muscle atrophy of SMA that persists after treatment of motor neurons and will serve as a complementary platform for drug screening in vitro.
Source: Stem Cell Research
Authors: Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D. Pang, John W. Day, Joseph C. Wu
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,210
Awards: G2168952822, G3895652242, G5170875372, Genome Editing of Human iPSCs to Study Inherited Hypertrophic Cardiomyopathy, G7279623005, Human iPSCs for Elucidating Intercellular Crosstalk Signaling in Dilated Cardiomyopathy, Human Induced Pluripotent Stem Cells for Cardiovascular Disease Modeling, Elucidating ECM Signaling in Cardiac Organoids with Machine Learning and Single-cell Multiomics, Elucidating Mechanism of Cardiac Fibrosis with Cell Village of Pooled Human iPSCs, Elucidating Anthracycline-Induced Cell Type-Specific Cardiovascular Toxicity with CRISPRi/a Screens, G953345205
OpenAlex ID: W4366124607