建立一个源自于一名患有瓦登伯格综合征患者的 iPSC 细胞系（CPGHi005-A），该患者携带一个杂合性 SVA-F 反转录转座子插入到 SOX10 基因中。
Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.
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, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China; Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory for Pediatric Diseases of Otolaryngology-Head and Neck Surgery, Beijing, China.
Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, China.
出版信息
Stem Cell Res. 2022 Jul;62:102831. doi: 10.1016/j.scr.2022.102831. Epub 2022 Jun 7.
Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells. The role of SINE-VNTR-Alu (SVA) retrotransposon insertions in disorders has only been minimally explored and there have been no reports of WS cases related to SVA retrotransposons. Here, we report the successful establishment and characterization of an iPSC line from a patient diagnosed with Waardenburg syndrome carrying an insertion of SVA in intron 2 of SOX10.
SOX10 基因突变导致的 Waardenburg 综合征的特征是感觉神经性听力损失和色素异常，可伴迁移性神经嵴细胞缺陷。SINE-VNTR-Alu（SVA）反转录转座子插入在疾病中的作用仅得到了最小程度的探索，并且没有报道与 SVA 反转录转座子相关的 WS 病例。在这里，我们报告了一例成功建立和鉴定的来自 Waardenburg 综合征患者的 iPSC 系，该患者携带 SOX10 内含子 2 中的 SVA 插入。
Zotero 插件