Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation
Summary
Timothy syndrome, an extremely rare disease, is closely associated with a mutation in CACNA1C gene, which encodes the cardiac L-type voltage-gated calcium channel (Cav1.2). In this study, we generated a human induced pluripotent stem cell (iPSC) line from a Timothy syndrome infant carrying heterozygous CACNA1C mutation (transcript variant NM_000719.7c.1216G>A: p.G406R). The generated iPSC line showed typical stem cell morphology, positively expressed pluripotency and proliferation markers, normal karyotype, and trilineage differentiation potential. Therefore, this patient-specific iPSC can be of great significance in investigating the mechanisms underlying Timothy syndrome, and hence establishing effective intervention strategies. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Jiang C, Huang W, Zhou Y, Wang J, Lei H, Niu Y, Zhou R, Zhang Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Oct;80:103513 |
| PubMed | 39079396 |
| DOI | 10.1016/j.scr.2024.103513 |