AI Article Synopsis
- Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a genetic neurodegenerative disorder linked to mutations in the FA2H gene, leading to various neurological issues and improper myelination.
- Researchers created two human induced pluripotent stem cell (hiPSC) lines, AKOSi011-A and AKOSi012-A, from fibroblasts of FAHN patients with specific gene mutations.
- These hiPSCs were developed using a non-integrating Sendai virus, maintaining a normal chromosome structure, retaining the original mutations, expressing pluripotency markers, and demonstrating the ability to differentiate into different cell types.
Article Abstract
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a hereditary neurodegenerative disease caused by mutations in the FA2H gene. Patients show a wide range of neurological symptoms and an abnormal myelination. Here we describe the generation of the human induced pluripotent stem cell (hiPSC) lines AKOSi011-A and AKOSi012-A, derived from FAHN-patient fibroblasts, carrying the compound heterozygous mutation p.Pro65Ser/p.Asp35Tyr and the homozygous mutation p.Tyr231His, respectively. The hiPSC lines were generated using a non-integrating Sendai virus. The obtained hiPSCs show an unobtrusive karyotype, carry the mutations of the original fibroblasts, express pluripotency markers and can differentiate into cells of the three germ layers.
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| http://dx.doi.org/10.1016/j.scr.2023.103178 | DOI Listing |
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