Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg


Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the central nervous system. Here we describe the generation of AKOSi010-A, a human induced pluripotent stem cell (hiPSC) line derived from fibroblasts of a female patient carrying the compound heterozygous p.Gly45Arg/p.His319Arg, using non-integrating Sendai virus. The generated iPSCs express pluripotency markers, can differentiate into cell types of the three germ layers and show a normal karyotype. This cell line displays a unique source to study the pathophysiology of FAHN. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Efendic F, Völkner C, Krohn S, Murua Escobar H, Venkateswaran S, Bennett S, Hermann A, Frech MJ
Journal Stem cell research
Publication Date 2022 Aug;63:102863
PubMed 35843022
DOI 10.1016/j.scr.2022.102863

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