A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells.
A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells.
复制标题
家族性人肌萎缩性侧索硬化症的综合文库诱导多能干细胞。
DOI：
10.1371/journal.pone.0118266
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Rothstein JD
中科院分区：
文献类型：
--
作者：
Li Y;Balasubramanian U;Cohen D;Zhang PW;Mosmiller E;Sattler R;Maragakis NJ;Rothstein JD
肌萎缩性侧索硬化症是一种进行性疾病，其特征是上、下运动神经元的丧失，导致随意肌瘫痪。大约10%的ALS病例是家族性的（fALS），其中15-20%与Cu/Zn超氧化物歧化酶（SOD 1）突变有关，通常以常染色体显性方式遗传。迄今为止，只有一种FDA批准的药物可适度增加生存率。我们对ALS发病机制的理解主要来自啮齿动物模型研究，但由于啮齿动物和人类之间的差异，有必要建立人源化模型用于疾病发病机制的研究以及药物开发。因此，我们产生了总共22个fALS患者特异性诱导多能干细胞（iPSC）系的综合文库。这些细胞在被存放到文库中之前被彻底表征。细胞文库包括多种C9 orf 72突变、sod 1突变、FUS、ANG和FIG 4突变。某些突变用一条以上的线表示，这允许研究可变的遗传背景。此外，这些iPSC可以成功分化为星形胶质细胞，这是一种已知在ALS疾病进展中起关键作用的细胞类型。这个库代表了一个全面的资源，可用于ALS疾病建模和新疗法的开发。
Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS cases are familial (fALS), among which 15–20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner. To date only one FDA approved drug is available which increases survival moderately. Our understanding of ALS disease mechanisms is largely derived from rodent model studies, however due to the differences between rodents and humans, it is necessary to have humanized models for studies of disease pathogenesis as well as drug development. Therefore, we generated a comprehensive library of a total 22 of fALS patient-specific induced pluripotent stem cell (iPSC) lines. These cells were thoroughly characterized before being deposited into the library. The library of cells includes a variety of C9orf72 mutations, sod1 mutations, FUS, ANG and FIG4 mutations. Certain mutations are represented with more than one line, which allows for studies of variable genetic backgrounds. In addition, these iPSCs can be successfully differentiated to astroglia, a cell type known to play a critical role in ALS disease progression. This library represents a comprehensive resource that can be used for ALS disease modeling and the development of novel therapeutics.
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影响因子：
25
作者：
Kang, Shin H.;Li, Ying;Fukaya, Masahiro;Lorenzini, Ileana;Cleveland, Don W.;Ostrow, Lyle W.;Rothstein, Jeffrey D.;Bergles, Dwight E.
通讯作者：
Bergles, Dwight E.
影响因子：
23.9
作者：
Kim D;Kim CH;Moon JI;Chung YG;Chang MY;Han BS;Ko S;Yang E;Cha KY;Lanza R;Kim KS
通讯作者：
Kim KS
影响因子：
25
作者：
Johnson, Janel O.;Pioro, Erik P.;Boehringer, Ashley;Chia, Ruth;Feit, Howard;Renton, Alan E.;Pliner, Hannah A.;Abramzon, Yevgeniya;Marangi, Giuseppe;Winborn, Brett J.;Gibbs, J. Raphael;Nalls, Michael A.;Morgan, Sarah;Shoai, Maryam;Hardy, John;Pittman, Alan;Orrell, Richard W.;Malaspina, Andrea;Sidle, Katie C.;Fratta, Pietro;Harms, Matthew B.;Baloh, Robert H.;Pestronk, Alan;Weihl, Conrad C.;Rogaeva, Ekaterina;Zinman, Lorne;Drory, Vivian E.;Borghero, Giuseppe;Mora, Gabriele;Calvo, Andrea;Rothstein, Jeffrey D.;Drepper, Carsten;Sendtner, Michael;Singleton, Andrew B.;Taylor, J. Paul;Cookson, Mark R.;Restagno, Gabriella;Sabatelli, Mario;Bowser, Robert;Chio, Adriano;Traynor, Bryan J.
通讯作者：
Traynor, Bryan J.
影响因子：
5.7
作者：
Da Cruz S;Cleveland DW
通讯作者：
Cleveland DW
影响因子：
46.9
作者：
Chambers, Stuart M.;Fasano, Christopher A.;Papapetrou, Eirini P.;Tomishima, Mark;Sadelain, Michel;Studer, Lorenz
通讯作者：
Studer, Lorenz