Human GLA (Galactosidase alpha) knockout HeLa cell pellet (ab279058)
Overview
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Product name
Human GLA (Galactosidase alpha) knockout HeLa cell pellet
See all Galactosidase alpha kits -
Product overview
Abcam’s knockout cell pellets give you access to native proteins, without the need to culture cells. Our knockout cell pellets are prepared from our single-gene knockout cell lines and provide an additional offering to our cell lysates.
Cells are snap-frozen to provide high quality pellets that are suitable for extraction with alternative lysis buffers or for preparation of lysates from subcellular fractions. Our knockout cell pellets are suitable for a variety of applications, including PCR, gene expression profiling and DNA library preparation. -
Parental Cell Line
HeLa -
Organism
Human -
Mutation description
Knockout achieved by using CRISPR/Cas9, 1 bp deletion in exon1. -
Passage number
Knockout validation
Sanger Sequencing, Western Blot (WB)Notes
Pellet size: 5 million cells/vial.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our limited use license and patent pages.
Tested applications
Suitable for: WBmore detailsProperties
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Storage instructions
Store at -80°C. Please refer to protocols. -
Components 1 kit Human GLA knockout HeLa cell pellet 1 vial Human wild-type HeLa cell pellet 1 vial -
Research areas
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Cell type
epithelial -
Disease
Adenocarcinoma -
Gender
Female -
STR Analysis
Amelogenin X D5S818: 11, 12 D13S317: 12, 13.3 D7S820: 8, 12 D16S539: 9, 10 vWA: 16, 18 TH01: 7 TPOX: 8,12 CSF1PO: 9, 10
Target
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Involvement in disease
Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. -
Sequence similarities
Belongs to the glycosyl hydrolase 27 family. -
Cellular localization
Lysosome. - Information by UniProt
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Alternative names
- AGAL_HUMAN
- Agalsidase alfa
- Alpha D galactosidase A
see all
Properties
-
Storage instructions
Store at -80°C. Please refer to protocols. -
Components 1 kit Human GLA knockout HeLa cell pellet 1 vial Human wild-type HeLa cell pellet 1 vial -
Research areas
-
Cell type
epithelial -
Disease
Adenocarcinoma -
Gender
Female -
STR Analysis
Amelogenin X D5S818: 11, 12 D13S317: 12, 13.3 D7S820: 8, 12 D16S539: 9, 10 vWA: 16, 18 TH01: 7 TPOX: 8,12 CSF1PO: 9, 10
Images
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Western blot - Human GLA (Galactosidase alpha) knockout HeLa cell pellet (ab279058)
Lane 1: Wild-type HeLa cell lysate (20 µg)
Lane 2: GLA knockout HeLa cell lysate (20 µg)
Lanes 1-2: Merged signal (red and green). Green - ab168341 observed at 49 kDa. Red - loading control ab8245 observed at 37 kDa.
ab168341 Anti-Galactosidase alpha antibody [EP5828(2)] was shown to specifically react with Galactosidase alpha in wild-type HeLa cells. Loss of signal was observed when knockout cell line ab265563 (knockout cell lysate ab257449) was used. Wild-type and Galactosidase alpha knockout samples were subjected to SDS-PAGE. ab168341 and Anti-GAPDH antibody [6C5] - Loading Control (ab8245) were incubated overnight at 4°C at 1 in 1000 and 1 in 20000 dilution respectively. Blots were developed with Goat anti-Rabbit IgG H&L (IRDye® 800CW) preadsorbed (ab216773) and Goat anti-Mouse IgG H&L (IRDye® 680RD) preadsorbed (ab216776) secondary antibodies at 1 in 20000 dilution for 1 hour at room temperature before imaging.
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Sanger Sequencing - Human GLA (Galactosidase alpha) knockout HeLa cell pellet (ab279058)Homozygous: 1 bp deletion in exon1