Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A)
Summary
Human Kinesin Family Member 5A (KIF5A) gene mutations have been identified as a putative genetic cause of amyotrophic lateral sclerosis (ALS). Disease modelling using human-induced pluripotent stem cells (HiPSCs) is the next-generation approach to studying numerous human diseases. For the current investigation, we report the generation of patient-specific KIF5A iPSC lines with a mutation at the splice site mutation (c.3020 + 3 A > T) in the intronic region. The resulting line displayed markers for pluripotency, a healthy karyotype, the ability to differentiate into three germ layers in vitro, vector clearance, the KIF5A mutation, STR-based genomic identity, and contamination-free culture. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ahmad I, Goel D, Ghosh A, Kapoor H, Kumar D, Srivastava AK, Faruq M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102904 |
| PubMed | 36055117 |
| DOI | 10.1016/j.scr.2022.102904 |