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

Fatima Efendic; Christin Völkner; Saskia Krohn; Hugo Murua Escobar; Sunita Venkateswaran; Steffany Bennett; Andreas Hermann; Moritz J Frech

doi:10.1016/j.scr.2022.102863

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

Stem Cell Res. 2022 Aug:63:102863. doi: 10.1016/j.scr.2022.102863. Epub 2022 Jul 12.

Authors

Fatima Efendic¹, Christin Völkner¹, Saskia Krohn², Hugo Murua Escobar², Sunita Venkateswaran³, Steffany Bennett⁴, Andreas Hermann⁵, Moritz J Frech⁶

Affiliations

¹ Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.
² Department of Medicine, Clinic III - Hematology, Oncology, Palliative Medicine, University Medical Center Rostock, 18057 Rostock, Germany.
³ Division of Pediatric Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ontario, Ottawa, ON K1H 8L1, Canada.
⁴ Neural Regeneration Laboratory, Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
⁵ Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, 18147 Rostock, Germany.
⁶ Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany; Center for Transdisciplinary Neurosciences Rostock (CTNR), University Medical Center Rostock, 18147 Rostock, Germany. Electronic address: moritz.frech@med.uni-rostock.de.

PMID: 35843022
DOI: 10.1016/j.scr.2022.102863

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Culture Techniques
Cells, Cultured
Child
Female
Fibroblasts / metabolism
Heredodegenerative Disorders, Nervous System
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation / genetics
Neurodegenerative Diseases* / metabolism

Supplementary concepts

Fatty Acid Hydroxylase-Associated Neurodegeneration