当前位置: X-MOL 学术Stem Cell Res. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect
Stem Cell Research ( IF 0.8 ) Pub Date : 2018-09-24 , DOI: 10.1016/j.scr.2018.09.015
Anika Neureiter , Björn Brändl , Michaela Hiber , Rashmi Tandon , Franz-Josef Müller , Laura Steenpass

Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from skin fibroblasts of a patient with AS, who, due to an imprinting defect, lacked DNA methylation at the chromosome 15 imprinting center, which controls maternal-specific expression of UBE3A.

Resource table

Unique stem cell line identifierZIPi015-K
Alternative name(s) of stem cell lineAS_ID, ZIP15
InstitutionZentrum für integrative Psychiatrie, University Hospital Kiel, Kiel, Germany
Contact information of distributorFranz-Josef Müller, [email protected]
Laura Steenpass, [email protected]
Type of cell lineiPSC
Originhuman
Additional origin infoAge: 12
Sex: female
Ethnicity if known: caucasian
Cell Sourceskin fibroblasts
Clonalityclonal
Method of reprogrammingepisomal/transgene-free
Genetic Modificationepigenetic aberration – imprinting defect
Type of Modificationlack of DNA methylation establishment or maintenance in the germ line of the patient's mother
Associated diseaseAngelman syndrome (OMIM #105830)
Gene/locusPrader-Willi/Angelman syndrome locus, chromosome 15q11q13
Method of modificationNA
Name of transgene or resistanceNA
Inducible/constitutive systemNA
Date archived/stock date14.04.2017 (Essen)
Cell line repository/bankNA
Ethical approvalEthikkommission der medizinischen Fakultät der Christian-Albrechts Universität zu Kiel, Approval number A145/11
A145/11



中文翻译:

由于烙印缺陷而导致的Angelman综合征患者的iPSC系的生成

Angelman综合征(AS)是一种神经发育障碍,主要症状为快乐的举止,智力残疾,共济失调和癫痫发作。AS可能是由遗传和表观遗传畸变引起的,导致大脑中不存在功能性UBE3A蛋白。UBE3A是一个印记基因,在脑神经元中仅由母本染色体15表达。产生的iPSC谱系来源于AS患者的皮肤成纤维细胞,由于该患者的印记缺陷,其在皮肤上缺乏DNA甲基化。第15号染色体上的印记中心,它控制UBE3A的母体特异性表达。

资源表

唯一的干细胞系标识符ZIPi015-K
干细胞系的替代名称AS_ID,ZIP15
机构德国基尔大学医院基尔综合精神病学中心
经销商联系方式弗朗兹·约瑟夫·穆勒(Franz- JosefMüller),[受电子邮件保护]
劳拉·斯汀帕斯(Laura Steenpass),[受电子邮件保护]
细胞系类型互联网服务中心
起源人类
附加来源信息年龄:12
性别:女性
种族(已知):白人
细胞来源皮肤成纤维细胞
克隆性克隆的
重新编程的方法游离/无转基因
基因改造表观遗传畸变–烙印缺陷
修改类型患者母亲的生殖系中缺乏DNA甲基化的建立或维持
相关疾病Angelman综合征(OMIM#105830)
基因/基因座Prader-Willi / Angelman综合征位点,染色体15q11q13
修改方法不适用
转基因或抗性的名称不适用
诱导/本构系统不适用
存档日期/库存日期2017年4月14日(埃森)
细胞系库/库不适用
道德认可祖尔基尔大学法医学和
伦理学专业委员会,批准号A145 / 11 A145 / 11

更新日期:2018-09-24
down
wechat
bug