iPSC Lines:

• MUSCSDi001-A-1 (PCCB Δ14/Δ29):An iPSC line derived from a patient with autosomal recessive propionic acidemia due to a deletion in the PCCB gene.

  
  

• MUSCSDi001-A-2 (PCCB Δ19/Δ481):Another iPSC line from a patient with autosomal recessive PA, also with PCCB gene mutations.

  
  

• UAMi001-A:An iPSC line generated from a patient with PA caused by defects in the PCCA gene.

  
  

• UAMi002-A and UAMi003-A:Two iPSC lines from PA patients, with detailed characterization available.

  
  

• UAMi004-A:An iPSC line from a PA patient with mutations in the PCCB gene.

  
  

• Fibroblast cell lines have been derived from PA patients with various genotypes, including:

  • Homozygous for PCCA c.1285-1416A>G

  • Homozygous for PCCA c. 412G>A (p. A138T)

  • Compound heterozygous for PCCA c. 229C>T (p. R77W)/c. 1846-2_1852del9

  • Homozygous for PCCB c. 1228C>T (p. R410W)

    
    

  
  

fibroblasts are frequently used in research for this condition, and several established fibroblast cell lines are commonly used as a basis for creating such cell lines. Propionic acidemia (PA) is a genetic disorder caused by mutations in the PCCA or PCCB genes, leading to a deficiency in the enzyme propionyl-CoA carboxylase. Researchers often use fibroblasts from patients with PA to study the disease and develop potential therapies.

Other Cell Lines:

• GM00371 (NTCC_2N24):

  A cell line from a female patient with propionic acidemia