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

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 m...

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Main Authors: Jin Li, Kaiwen Wu, Jing Guan, Qiuju Wang, Hongyang Wang
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002221
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spelling doaj-ced5e77d8d2b48e58b239764ca3269cc2021-05-30T04:41:50ZengElsevierStem Cell Research1873-50612021-05-0153102376Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutationJin Li0Kaiwen Wu1Jing Guan2Qiuju Wang3Hongyang Wang4College of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, ChinaCollege of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, ChinaCollege of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, ChinaCollege of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, ChinaCollege of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; Corresponding author at: College of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China.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.http://www.sciencedirect.com/science/article/pii/S1873506121002221
collection DOAJ
language English
format Article
sources DOAJ
author Jin Li
Kaiwen Wu
Jing Guan
Qiuju Wang
Hongyang Wang
spellingShingle Jin Li
Kaiwen Wu
Jing Guan
Qiuju Wang
Hongyang Wang
Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
Stem Cell Research
author_facet Jin Li
Kaiwen Wu
Jing Guan
Qiuju Wang
Hongyang Wang
author_sort Jin Li
title Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
title_short Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
title_full Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
title_fullStr Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
title_full_unstemmed Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation
title_sort generation of a human induced pluripotent stem cell line (cpghi003-a) from an auditory neuropathy patient with aifm1 p.r422q mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-05-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506121002221
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