Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys)
Year: 2025
Type: article
Abstract: 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.
Source: Stem Cell Research
Authors: Maheshwari Baduvandra Chettiyappa, Bevinahalli Nanjegowda Nandeesh, Madhura Milind Nimonkar, Sekar Deepha, Siddharth Kapahtia, Meenakshi Sharma, Periyasamy Govindaraj, Bhupesh Mehta, Yogananda S. Markandeya
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
Awards: G4880858795, G5884079327, G6455402960
OpenAlex ID: W4415225827