Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.
复制标题
因印迹缺陷而产生 Angelman 综合征患者的 iPSC 系
DOI：
10.1016/j.scr.2018.09.015
复制
发表时间：
2018
影响因子：
1.2
通讯作者：
Steenpass L
中科院分区：
文献类型：
--
作者：
Neureiter A;Brändl B;Hiber M;Tandon R;Müller F-J;Steenpass L
Angelman综合征（AS）是一种以行为愉快、智力障碍、共济失调和癫痫发作为主要症状的神经发育障碍。AS可由遗传和表观遗传畸变引起，导致脑中功能性UBE 3A蛋白的缺失。UBE 3A是一种印迹基因，其在脑神经元中仅从母体15号染色体表达。所产生的iPSC系来源于患有AS的患者的皮肤成纤维细胞，该患者由于印记缺陷而在控制UBE 3A的母体特异性表达的染色体15印记中心缺乏DNA甲基化。资源表唯一干细胞系标识符ZIPi 015-K干细胞系AS_ID的替代名称，ZIP 15 InstitutonZentrum für integrated Psychiatrie，University Hospital基尔，基尔，德国经销商联系信息Franz-Josef Müller，franz-josef.mueller@uksh. de Laura.steenpass@uk-essen. de细胞系类型PSCoriginhuman其他来源信息年龄：12性别：女性种族（如已知）：高加索人细胞来源皮肤成纤维细胞克隆体重编程方法无附加/转基因遗传修饰表观遗传畸变-印记缺陷修饰类型患者母亲生殖系中缺乏DNA甲基化建立或维持相关疾病Angelman综合征（OMIM #105830）基因/位点Prader-Willi/Angelman综合征基因座，染色体15 q11 q13修饰方法NANA转基因或抗性的名称NA诱导型/组成型系统NADate存档/存档日期14.04.2017（埃森）细胞系储存库/银行NA Ethical approval批准Kommission der medizinischen Fakultät der Christian-Albrechts Universität zu基尔，批准号A145/11 A145/11
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.UBE3Ais 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 ofUBE3A.Resource tableUnique stem cell line identifierZIPi015-KAlternative name(s) of stem cell lineAS_ID, ZIP15InstitutionZentrum für integrative Psychiatrie, University Hospital Kiel, Kiel, GermanyContact information of distributorFranz-Josef Müller, franz-josef.mueller@uksh.deLaura Steenpass, laura.steenpass@uk-essen.deType of cell lineiPSCOriginhumanAdditional origin infoAge: 12Sex: femaleEthnicity if known: caucasianCell Sourceskin fibroblastsClonalityclonalMethod of reprogrammingepisomal/transgene-freeGenetic Modificationepigenetic aberration – imprinting defectType of Modificationlack of DNA methylation establishment or maintenance in the germ line of the patient's motherAssociated diseaseAngelman syndrome (OMIM #105830)Gene/locusPrader-Willi/Angelman syndrome locus, chromosome 15q11q13Method of modificationNAName of transgene or resistanceNAInducible/constitutive systemNADate archived/stock date14.04.2017 (Essen)Cell line repository/bankNAEthical approvalEthikkommission der medizinischen Fakultät der Christian-Albrechts Universität zu Kiel, Approval number A145/11A145/11