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.authorKaewboonlert N.
dc.contributor.authorWattanapanitch M.
dc.contributor.authorPraditsap O.
dc.contributor.authorDeejai N.
dc.contributor.authorChanprasert C.
dc.contributor.authorSawasdee N.
dc.contributor.authorNettuwakul C.
dc.contributor.authorWanachiwanawin W.
dc.contributor.authorSritippayawan S.
dc.contributor.authorThamtarana P.J.
dc.contributor.authorYenchitsomanus P.t.
dc.contributor.authorRungroj N.
dc.contributor.otherMahidol University
dc.date.accessioned2023-05-19T07:35:22Z
dc.date.available2023-05-19T07:35:22Z
dc.date.issued2023-03-01
dc.description.abstractDistal 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.citationStem Cell Research Vol.67 (2023)
dc.identifier.doi10.1016/j.scr.2023.103043
dc.identifier.eissn18767753
dc.identifier.issn18735061
dc.identifier.pmid36791635
dc.identifier.scopus2-s2.0-85147903940
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/81643
dc.rights.holderSCOPUS
dc.subjectBiochemistry, Genetics and Molecular Biology
dc.titleAn 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.typeArticle
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85147903940&origin=inward
oaire.citation.titleStem Cell Research
oaire.citation.volume67
oairecerif.author.affiliationSiriraj Hospital

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