Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys)
Summary
IBA57 (Iron-Sulphur Cluster Assembly Factor IBA57) is a gene that encodes a protein iron-sulfur clusters which is crucial for mitochondrial maturation, mutation in these genes cause mitochondrial dysfunction. Clinical indication varies from neonatal lethality to childhood-onset spastic paraparesis resulting from mitochondrial dysfunctions. We reprogrammed fibroblasts from a patient carrying an IBA57 variant (c.338A>G) into induced pluripotent stem cells (iPSCs). The generated iPSCs showed a normal karyotype, positive expression for markers of undifferentiated hPSCs and were able to differentiate into three germ layers in vitro. The established NIMHi020-A iPSCs can be utilized for modelling neuromuscular disorders. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chettiyappa MB, Nandeesh BN, Nimonkar MM, Deepha S, Kapahtia S, Sharma M, Govindaraj P, Mehta B, Markandeya YS |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct 14;89:103853 |
| PubMed | 41108822 |
| DOI | 10.1016/j.scr.2025.103853 |