从一位患有 ATP6V1B2 基因杂合 c.1516C>T 突变的 DDOD 患者中生成经基因校正的人同基因 iPSC 系（CPGHi002-A-1）。
Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.
机构信息
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, 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, China.
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing Key Lab of Hearing Impairment Prevention and Treatment, 28 Fuxing Road, Beijing 100853, China.
出版信息
Stem Cell Res. 2021 May;53:102271. doi: 10.1016/j.scr.2021.102271. Epub 2021 Feb 25.
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Here we genetically corrected the c.1516 C>T mutation in the ATP6V1B2 gene using CRISPR/Cas9 technology to generate an isogenic control, CPGHi002-A-1. The characterization of CPGHi002-A-1 demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.
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病，由 ATP6V1B2 基因突变引起。我们之前从一位 ATP6V1B2 基因突变杂合 c.1516 C>T 的 DDOD 患者中生成了诱导多能干细胞（iPSC）系（CPGHi002-A）。在此，我们使用 CRISPR/Cas9 技术对 ATP6V1B2 基因中的 c.1516 C>T 突变进行了基因矫正，生成了一个同基因对照系 CPGHi002-A-1。CPGHi002-A-1 的特征分析表明其具有正常核型、多能性状态，并具有向三胚层分化的潜能。
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