来自早发性帕金森病女性患者的PARKIN蛋白缺陷iPSC系(FINi006-A

IF 0.7 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov
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引用次数: 0

摘要

PRKN基因的复合杂合性是常染色体家族性帕金森病(PD)的常见原因。我们从PARKIN蛋白缺乏的早发性PD女性患者的成纤维细胞中生成了一株iPSC细胞系,该细胞系携带外显子2和外显子5-7的基因组缺失。该品系表现出人类iPSC的特征形态和多能性相关基因的表达,并能够分化为三个胚胎胚层的衍生物,并且具有正常的核型,没有任何SNP阵列可检测的拷贝数变化。我们期待这一缺乏帕金森的iPSC细胞系及其衍生物在阐明该蛋白在PD发展中的细胞内作用方面的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient
Compound heterozygosity for strong hypomorphic mutations in the PRKN gene is a common cause of autosomal familial Parkinson’s disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5–7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD.
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来源期刊
Stem cell research
Stem cell research 生物-生物工程与应用微生物
CiteScore
2.20
自引率
8.30%
发文量
338
审稿时长
55 days
期刊介绍: Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
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