Investigating APOL1 and SHROOM3 in Kidney Research
APOL1 encodes apolipoprotein L1, a protein involved in innate immunity. Two APOL1 risk-associated variants, commonly referred to as G1 and G2, have been associated with increased risk of certain kidney diseases.
SHROOM3 encodes a protein involved in cellular organization and tissue development. Genetic variation near SHROOM3, including rs17319721, has been associated with kidney function and chronic kidney disease in human genetic studies.
Could naturally occurring genetic variation in APOL1 and SHROOM3 contribute to differences in renal cell responses?
Genotype-defined primary human renal cells allow researchers to compare cellular responses under matched experimental conditions and investigate genetic variation associated with kidney function and injury.
Genotype information can support research stratification, but genotype alone does not establish a specific cellular phenotype or predict disease risk or treatment response.
APOL1: Investigating Genetic Factors in Kidney Disease
| Allele | Variant(s) | Protein Change |
|---|---|---|
| G0 | Reference | n/a |
| G1 | rs73885319 + rs60910145 | S342G + I384M |
| G2 | rs71785313 | 6-bp deletion (N388/Y389) |
Currently Available APOL1 Genotypes
- G0/G0: No G1 or G2 risk-associated alleles.
- G0/G1: One G1 risk-associated allele.
- G0/G2: One G2 risk-associated allele.
- G1/G1: Two G1 risk-associated alleles, associated with increased susceptibility to APOL1-related kidney disease.
APOL1 G1 and G2 variants have been associated with increased susceptibility to kidney diseases, including focal segmental glomerulosclerosis (FSGS) and chronic kidney disease (CKD). The degree of risk depends in part on the combination of inherited alleles, with two risk-associated alleles generally conferring greater risk than one.
SHROOM3: Exploring Genetic Variation in Kidney Function
SHROOM3 encodes a protein involved in cellular organization and tissue development. Genetic variation near SHROOM3, including rs17319721, has been associated with kidney function and chronic kidney disease in human genetic studies.
Genotype-defined renal cells can support exploratory studies of cellular architecture, gene expression, cellular responses, and pathways involved in kidney injury and tissue remodeling.
Variant target: SHROOM3 · rs17319721
Genotype-Defined Human Renal Cell Models
| Cell Type | Catalog No. | Genotype Targets |
|---|---|---|
| Human Renal Proximal Tubular Epithelial Cells | Cat. #4100 | Available |
Make Genetic Background Part of Your Experimental Design
Donor-to-donor variation can complicate the interpretation of primary renal cell experiments. Selecting cells by a defined genotype allows researchers to investigate whether variation at a biologically relevant locus contributes to differences in cellular responses.
Select the Optimal Renal Cell Model
Choose the appropriate primary human cell type (such as renal proximal tubular epithelial cells, Cat. #4100) tailored to your specific experimental question and cellular context.
Examine APOL1-Associated Stress & Injury Pathways
Investigate APOL1-associated cellular stress, inflammatory signaling, and functional injury models (including cell migration, matrix production, and contractility relevant to wound healing and fibrosis) under matched experimental conditions.
Characterize Cellular Activation & Matrix Responses
Evaluate key activation and extracellular matrix markers—such as ACTA2 ($\alpha$-SMA), COL1A1, COL3A1, and fibronectin—to assess renal cell activation and tissue remodeling.
Evaluate Genotype-Associated Drug Responses
Compare cellular reactions to candidate pathway-modulating, antifibrotic, or matrix-modulating compounds across diverse donor genotype groups to generate hypotheses regarding genetic influences on drug response.
Unlike an engineered model that isolates a single genetic change, primary donor-derived renal cells retain their naturally occurring genetic background. This supports research in a human cellular context, although other donor-specific genetic and biological differences must also be considered.
For genotype-comparison studies, using multiple independent donors per group and matched culture and treatment conditions can help distinguish genotype-associated effects from donor-specific variation.
Genotype-Defined Human Renal Cell Research Applications
These are research applications, not established predictions of cellular phenotype or clinical treatment response.
Request Genotype-Defined Human Renal Cells
Genotype-defined donor lots are available by request. Availability varies by cell type, donor lot, and genotype, and a selection and verification fee applies per vial.
Choose Your Cell Type
Select the cell type and catalog number: Human Renal Proximal Tubular Epithelial Cells, Cat No. 4100.
Specify Your Research Requirements
Tell us the target (APOL1 and/or SHROOM3), variant, and required genotype.
Contact ScienCell
Our team can confirm available donor lots and provide product and genotype documentation.
Please note that availability varies by genotype and donor lot. A selection and verification fee will be applied per vial and reflected in your quote.
For information on available genotypes, assistance selecting the right cells, or inquiries about additional genotypes and cell types, please contact us at info@sciencellonline.com, or call 1.877.602.8549.