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

Stem cell research - 1 May 2021

Li Jin, Wu Kaiwen, Guan Jing, Wang Qiuju, Wang Hongyang

Abstract excerpt

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...

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PMID: 34088005
DOI: 10.1016/j.scr.2021.102376

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