C9orf72 Knockout cell line (HEK293)

Catalog Number: KO36072

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Specifications

Product Information
Product Name	C9orf72 Knockout cell line (HEK293)
specification	1*10^6
Storage and transportation	Dry ice preservation/T25 live cell transportation.
Cell morphology	Epithelioid, adherent cell
Passage ratio	1:3~1:6
species	Human
Gene	C9orf72
Gene ID	203228
Build method	Electric rotation method / virus method
Mycoplasma testing	Negative
Cultivation system	90%DMEM+10% FBS
Parental Cell Line	HEK293
Quality Control	Genotype: C9orf72 Knockout cell line (HEK293) >95% viability before freezing. All cells were tested and found to be free of bacterial, viruses,mycoplasma and other toxins.

Gene Information
Gene Official Full Name	C9orf72-SMCR8 complex subunitprovided by HGNC
Also known as	ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
Gene Description	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
Expression	Ubiquitous expression in appendix (RPKM 9.7), testis (RPKM 9.3) and 25 other tissues See more

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