Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation

Hongyang Wang; Kaiwen Wu; Jing Guan; Qiuju Wang

doi:10.1016/j.scr.2020.101982

Stem Cell Research (Dec 2020)

Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation

Hongyang Wang,
Kaiwen Wu,
Jing Guan,
Qiuju Wang

Affiliations

Hongyang Wang: College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China
Kaiwen Wu: College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China
Jing Guan: College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China
Qiuju Wang: College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, China; Key Lab of Hearing Impairment Science of Ministry of Education, China; Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China; Corresponding author at: College of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China.

DOI: https://doi.org/10.1016/j.scr.2020.101982
Journal volume & issue: Vol. 49
p. 101982

Abstract

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By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the urine cells of a male patient from the family carrying the TMC1 p.M418K mutation. This mutation is homologous to that in Beethoven mice, which were treated by gene editing successfully. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of TMC1-related deafness, further laying the foundation for clinical transformation applications and providing a reference for the final gene therapy in humans.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.sciencedirect.com/journal/stem-cell-research

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