技术资料

实验方案
如何冻存外周血单个核细胞（PBMCs）？

研究方向：

免疫学
实验方案
How to Thaw Frozen Primary Cells

研究方向：

免疫学，干细胞生物学，疾病建模，药物发现和毒理检测，传染病，癌症研究
实验方案
如何从小鼠脾脏制备单细胞悬液

研究方向：

免疫学，干细胞生物学
实验方案
如何从存放时间较长的血液样本去除粒细胞？

研究方向：

免疫学，药物发现和毒理检测，传染病
实验方案
如何使用DNase I减少单细胞悬液中的细胞团块

研究方向：

免疫学，干细胞生物学
实验方案
如何通过免疫密度细胞分选技术分离出特定的细胞亚群？

研究方向：

免疫学，药物发现和毒理检测，传染病
实验方案
如何从全血制备白膜层？

研究方向：

免疫学，药物发现和毒理检测，传染病
点播课程
Human Immune Cell Isolation Course
技术手册
ThawSTAR CB User Manual
科学海报
Isolation of Mouse CD45 Positive Leukocytes from Tissues
P. A. Terhal et al. (may 2019) European journal of human genetics : EJHG

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.

RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A,POLR3B,and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. In this report,we describe three individuals with biallelic variants in POLR3GL,a gene encoding a Pol III subunit that has not been associated with disease before. Using whole exome sequencing in a monozygotic twin and an unrelated individual,we detected homozygous and compound heterozygous POLR3GL splice acceptor site variants. RNA sequencing confirmed the loss of full-length POLR3GL RNA transcripts in blood samples of the individuals. The phenotypes of the described individuals are mainly characterized by axial endosteal hyperostosis,oligodontia,short stature,and mild facial dysmorphisms. These features largely fit within the spectrum of phenotypes caused by previously described biallelic variants in POLR3A,POLR3B,POLR1C,and POLR3K. These findings further expand the spectrum of POLR3-related disorders and implicate that POLR3GL should be included in genetic testing if such disorders are suspected. View Publication

产品号#：

85415

85420

85450

85460

产品名：

SepMate™-15 (IVD), 100 units

SepMate™-15 (IVD)

SepMate™-50 (IVD)

SepMate™-50 (IVD)
产品手册
EasySep™细胞分选技术 - 更高效地分离细胞

品牌：

EasySep