Genetic Disorders

Single-gene disorders, or Mendelian disorder, monogenic disease, monogenic disorder, are caused by mutations in a single gene[4], [5]. The examples of this group include sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay–Sachs disease[4]. Sickle cell disease, or sickle cell anemia, is the result of a single base-pair point mutation (GAG to GTG) in codon 6 of the human β-globin[6], [7], [8]. The substitution from glutamic acid to valine changes hemoglobin solubility and interactions, leading to polymerization and sickling of red blood cells[9]. Cystic fibrosis, which lead to impaired mucus hydration and clearance and affects more than 100,000 individuals globally, is caused by the mutations in CFTR[10], a protein functioning as chloride channel in the apical membrane of epithelial cells[11]. The common form of polycystic kidney disease is autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in either the PKD1 gene on chromosome 16 or PKD2 gene on chromosome 4[12], [13]. Tay–Sachs disease is an autosomal recessive neurodegenerative disorder, caused by a deficiency of β-hexosaminidase A, leading to impaired degradation of GM2 ganglioside, its accumulation in neuronal lysosomes, and progressive neuronal damage[14], [15].

Peripheral Blood Mononuclear Cells (PBMCs) can promote the research of cell and gene therapy of sickle cell disease.
Rat PBMCs ARP0359
Mouse PBMCs ARP0603
Rabbit PBMCs ARP0846

Airway epithelial cells or bronchial epithelial cells are used in the research on cystic fibrosis
Human Bronchial Epithelial Cells ARP0138
Human Bronchial Epithelial Cells – adult ARP0139
Human Small Airway Epithelial Cells ARP0141
Human Small Airway Epithelial Cells – adult ARP0142
Rat Bronchial Epithelial Cells ARP0182
Rat Airway Epithelial Cells ARP0189
Mouse Bronchial Epithelial Cells ARP0423
Mouse Airway Epithelial Cells ARP0432
Rabbit Bronchial Epithelial Cells ARP0668
Rabbit Airway Epithelial Cells ARP0677
Pig Bronchial Epithelial Cells ARP0941
Sheep Bronchial Epithelial Cells ARP0950
Sheep Airway Epithelial Cells ARP0959
Bovine Bronchial Epithelial Cells ARP0976
Bovine Airway Epithelial Cells ARP0985

Using renal epithelial cells to investigate polycystic kidney disease, especially the cells from kidney tubules, where cysts form.
Human Renal Proximal Tubular Epithelial Cells ARP0150
Rat Renal Tubular Epithelial Cells ARP0250
Rat Renal Proximal Tubular Epithelial Cells ARP0267
Mouse Renal Tubular Epithelial Cells ARP0493
Mouse Renal Proximal Tubular Epithelial Cells ARP0510
Rabbit Renal Tubular Epithelial Cells ARP0737
Rabbit Renal Proximal Tubular Epithelial Cells ARP0753
Pig Renal Tubular Epithelial Cells ARP0914
Sheep Renal Tubular Epithelial Cells ARP0955

Human neurons are provided for the research on Tay–Sachs disease.
Human Neurons ARP0096
Human Neurons – midbrain ARP0097
Human Neurons - brain stem ARP0098
Human Hippocampal Neurons ARP0100

SH-SY5Y neuroblastoma cell line is also used as the neuronal model for lysosomal studies.

Cell Models for Thalassemia - K562 ARC0380
K562 cells are useful for studying erythroid differentiation and fetal hemoglobin regulation, but they do not fully model adult β-globin production or patient-specific β-thalassemia pathology

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[10]    M. Shteinberg, I. J. Haq, D. Polineni, and J. C. Davies, “Cystic fibrosis,” The Lancet, vol. 397, no. 10290, pp. 2195–2211, Jun. 2021, doi: 10.1016/S0140-6736(20)32542-3.
[11]    D. N. Sheppard and M. J. Welsh, “Structure and Function of the CFTR Chloride Channel,” Physiol. Rev., vol. 79, no. 1, pp. S23–S45, Jan. 1999, doi: 10.1152/physrev.1999.79.1.S23.
[12]    P. C. Harris and V. E. Torres, “Polycystic Kidney Disease,” Annual Review of Medicine, vol. 60, no. Volume 60, 2009. Annual Reviews, pp. 321–337, 2009. doi: https://doi.org/10.1146/annurev.med.60.101707.125712.
[13]    P. Igarashi and S. Somlo, “Genetics and Pathogenesis of Polycystic Kidney Disease,” J. Am. Soc. Nephrol., vol. 13, no. 9, pp. 2384–2398, Sep. 2002, doi: 10.1097/01.ASN.0000028643.17901.42.
[14]    F. Lui, P. K. Ramani, and B. Parayil Sankaran, “Tay-Sachs Disease,” in StatPearls, Treasure Island (FL): StatPearls Publishing, 2025. Accessed: Sep. 10, 2025. [Online]. Available: http://www.ncbi.nlm.nih.gov/books/NBK564432/
[15]    J. A. Fernandes Filho and B. E. Shapiro, “Tay-Sachs Disease,” Arch. Neurol., vol. 61, no. 9, p. 1466, Sep. 2004, doi: 10.1001/archneur.61.9.1466.