Human COL6A1 knockout HEK293T cell pellet (ab279103)
Overview
-
Product name
Human COL6A1 knockout HEK293T cell pellet
See all COL6A1 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
HEK293T -
Organism
Human -
Mutation description
Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp deletion in exon 2. -
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
-
Storage instructions
Store at -80°C. Please refer to protocols. -
Components 1 kit Human COL6A1 knockout HEK293T cell pellet 1 vial Human wild-type HEK293T cell pellet 1 vial -
Research areas
-
Cell type
epithelial -
STR Analysis
Amelogenin X D5S818: 8, 9 D13S317: 11, 12, 14 D7S820: 11 D16S539: 9, 13 vWA: 15, 20 TH01: 7, 9.3 TPOX: 11, 12 CSF1PO: 12
Target
-
Function
Collagen VI acts as a cell-binding protein. -
Involvement in disease
Defects in COL6A1 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.
Defects in COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. -
Sequence similarities
Belongs to the type VI collagen family.
Contains 3 VWFA domains. -
Post-translational
modificationsProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. -
Cellular localization
Secreted > extracellular space > extracellular matrix. - Information by UniProt
-
Alternative names
- Alpha 1 (VI) chain (61 AA)
- CO6A1_HUMAN
- COL6A1
see all
Properties
-
Storage instructions
Store at -80°C. Please refer to protocols. -
Components 1 kit Human COL6A1 knockout HEK293T cell pellet 1 vial Human wild-type HEK293T cell pellet 1 vial -
Research areas
-
Cell type
epithelial -
STR Analysis
Amelogenin X D5S818: 8, 9 D13S317: 11, 12, 14 D7S820: 11 D16S539: 9, 13 vWA: 15, 20 TH01: 7, 9.3 TPOX: 11, 12 CSF1PO: 12
Images
-
Western blot - Human COL6A1 knockout HEK293T cell pellet (ab279103)
Lane 1:Wild-type HEK293T cell lysate (20 ug)
Lane 2:COL6A1 knockout HEK293T cell lysate (20 ug)
Lane 3:Human skeletal muscle tissue lysate (20 ug)ab182744 was shown to specifically react with Collagen VI antibody in wild-type HEK293T cells. Loss of signal was observed when knockout cell line ab265060 (knockout cell lysate ab256879) was used. Wild-type and Collagen VI antibody knockout samples were subjected to SDS-PAGE. ab182744 and Anti-GAPDH antibody [6C5] - Loading Control (ab8245) were incubated at room temperature for 2.5 hours at 1 in 1000 dilution 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.
-
Sanger Sequencing - Human COL6A1 knockout HEK293T cell pellet (ab279103)Homozygous: 1 bp deletion in exon 2
