Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation


AIFM1 is the most common gene related to late-onset Auditory Neuropathy (AN), which is characterized by a main manifestation of impaired speech comprehension. By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood cells of a male patient from the family carrying the X-linked AIFM1 p.R422Q mutation. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vitro. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of AIFM1-related AN, further laying the foundation for clinical treatment in humans. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li J, Wu K, Guan J, Wang Q, Wang H
Journal Stem cell research
Publication Date 2021 May;53:102376
PubMed 34088005
DOI 10.1016/j.scr.2021.102376

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