Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9
Summary
CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cell lines with a gene-dosage dependent deficiency of CACNA1A. We obtained one clone with monoallelic (UCSFi001-A-60) and two clones with biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A. All three lines showed expression of pluripotency markers and a normal karyotype. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hommersom MP, Bijnagte-Schoenmaker C, Albert S, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 May;61:102730 |
| PubMed | 35286975 |
| DOI | 10.1016/j.scr.2022.102730 |