Journal Article

DZNE-2022-01336

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.

Efendic, F. ; Völkner, C. ; Krohn, S. ; Murua Escobar, H. ; Venkateswaran, S. ; Bennett, S. ; Hermann, A.DZNE* ; Frech, M. J.

2022
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: 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.

Keyword(s): Cell Culture Techniques (MeSH) ; Cells, Cultured (MeSH) ; Child (MeSH) ; Female (MeSH) ; Fibroblasts: metabolism (MeSH) ; Heredodegenerative Disorders, Nervous System (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH) ; Mutation: genetics (MeSH) ; Neurodegenerative Diseases: metabolism (MeSH)

Note: CC BY-NC-ND

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Contributing Institute(s):

1. Translational Neurodegeneration (AG Hermann)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2022

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