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GNAS Knockout cell line (HEK293)

Catalog Number: KO08816

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Specifications

Product Information
Product Name GNAS 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 GNAS
Gene ID 2778
Build method Electric rotation method / virus method
Mycoplasma testing Negative
Cultivation system 90%DMEM+10% FBS
Parental Cell Line HEK293
Quality Control Genotype: GNAS 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 GNAS complex locusprovided by HGNC
Also known as AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; AIMAH1; C20orf45
Gene Description This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
Expression Ubiquitous expression in thyroid (RPKM 405.2), brain (RPKM 137.2) and 25 other tissues See more

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