Article
An induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.
Stem cell research - 1 Mar 2023
Kaewboonlert Narissara, Wattanapanitch Methichit, Praditsap Oranud, Deejai Nipaporn, Chanprasert Chutima, Sawasdee Nunghathai, Nettuwakul Choochai, Wanachiwanawin Wanchai, Sritippayawan Suchai, Thamtarana Prapaporn Jungtrakoon, Yenchitsomanus Pa-Thai, Rungroj Nanyawan
Abstract excerpt
Distal renal tubular acidosis (dRTA), a disease characterized by the failure of the distal nephron to secrete acid into the urine, can be caused by mutations in SLC4A1 gene encoding erythroid and kidney anion exchanger 1 (AE1). Here, an induced pluripotent stem cell (iPSC) line was generated from a patient with dRTA and hemolytic anemia carrying compound heterozygous SLC4A1 mutations containing c.1199_1225del...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.