从一名患有DDOD综合征的10个月大女性患者中建立人诱导多能干细胞系（CPGHi002-A），该患者在ATP6V1B2基因中携带杂合的c.1516 C>T突变。
Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.
作者信息
Gao Xue, Qiu Shi-Wei, Feng Meng-Long, Huang Sha-Sha, Kang Dong-Yang, Han Ming-Yu, Dai Pu, Yuan Yong-Yi
机构信息
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, China; National Clinical Research Center for Otolaryngologic Diseases, 28 Fuxing Road, Beijing 100853, China; State Key Lab of Hearing Science, Ministry of Education, 28 Fuxing Road, Beijing 100853, China; Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# Xin Wai Da Jie, Beijing 100088, PR China.
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing 100853, China; National Clinical Research Center for Otolaryngologic Diseases, 28 Fuxing Road, Beijing 100853, China; State Key Lab of Hearing Science, Ministry of Education, 28 Fuxing Road, Beijing 100853, China; Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China.
出版信息
Stem Cell Res. 2020 Oct;48:101986. doi: 10.1016/j.scr.2020.101986. Epub 2020 Sep 8.
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. The induced pluripotent stem cell (iPSC) line was generated using the non-integrating episomal vector method from peripheral blood mononuclear cells (PBMCs) of a 10-month-old female DDOD patient with heterozygous ATP6V1B2 c.1516 C > T variant. This cell line may serve as a useful model for studying the pathogenic mechanisms and treatment of DDOD syndrome.
显性耳聋-甲营养不良（DDOD）综合征是一种罕见的常染色体显性遗传性疾病，目前在人类中尚无具体治疗方法。我们之前鉴定出ATP6V1B2基因中的c.1516 C>T（p.Arg506*）为DDOD综合征的病因，该基因变异解释了所有该遗传病病例。诱导多能干细胞（iPSC）系是使用非整合型附加体质粒载体法，从一名患有杂合型ATP6V1B2基因c.1516 C>T变异的10个月大女性DDOD患者的外周血单个核细胞（PBMC）中生成的。该细胞系可作为研究DDOD综合征致病机制和治疗方法的有用模型。
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