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
dc.contributor.author | Kaewboonlert N. | |
dc.contributor.author | Wattanapanitch M. | |
dc.contributor.author | Praditsap O. | |
dc.contributor.author | Deejai N. | |
dc.contributor.author | Chanprasert C. | |
dc.contributor.author | Sawasdee N. | |
dc.contributor.author | Nettuwakul C. | |
dc.contributor.author | Wanachiwanawin W. | |
dc.contributor.author | Sritippayawan S. | |
dc.contributor.author | Thamtarana P.J. | |
dc.contributor.author | Yenchitsomanus P.t. | |
dc.contributor.author | Rungroj N. | |
dc.contributor.other | Mahidol University | |
dc.date.accessioned | 2023-05-19T07:35:22Z | |
dc.date.available | 2023-05-19T07:35:22Z | |
dc.date.issued | 2023-03-01 | |
dc.description.abstract | 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 (p.Ala400_Ala408del), resulting in Southeast Asian ovalocytosis (SAO), and c.1331C>A (p.Thr444Asn). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using Sendai viral reprogramming. The established iPSC line, MUSIi019-A, exhibited pluripotent property and retained the same mutations observed in the patients. | |
dc.identifier.citation | Stem Cell Research Vol.67 (2023) | |
dc.identifier.doi | 10.1016/j.scr.2023.103043 | |
dc.identifier.eissn | 18767753 | |
dc.identifier.issn | 18735061 | |
dc.identifier.pmid | 36791635 | |
dc.identifier.scopus | 2-s2.0-85147903940 | |
dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/123456789/81643 | |
dc.rights.holder | SCOPUS | |
dc.subject | Biochemistry, Genetics and Molecular Biology | |
dc.title | 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 | |
dc.type | Article | |
mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85147903940&origin=inward | |
oaire.citation.title | Stem Cell Research | |
oaire.citation.volume | 67 | |
oairecerif.author.affiliation | Siriraj Hospital |