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Article

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 research - 1 Aug 2022

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

Abstract excerpt

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...

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

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Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.PMID 35843022Read ↗

Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts.Semantic proximity Read ↗

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