Generation of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell

dc.contributor.authorChanprasert C.
dc.contributor.authorPromnakhon N.
dc.contributor.authorThongsin N.
dc.contributor.authorSuwanpitak S.
dc.contributor.authorPlengvidhya N.
dc.contributor.authorYenchitsommanus P.t.
dc.contributor.authorJungtrakoon Thamtarana P.
dc.contributor.authorWattanapanitch M.
dc.contributor.otherMahidol University
dc.date.accessioned2023-06-18T16:48:20Z
dc.date.available2023-06-18T16:48:20Z
dc.date.issued2022-04-01
dc.description.abstractA heterozygous mutation (c.T1424C: p.L475P) in ZYG11A completely segregating with hyperglycemia in a Thai family with familial diabetes of the adulthood has been reported as a cause of cell cycle arrest in 1.1B4 cell line. This mutation is a suggestive cause of failure in adaptive beta-cell expansion which, thereby, contributes to the development of diabetes in the family. Here, an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an affected family member carrying the mutation was generated using Sendai viral reprogramming. The established iPSC line is characterized and confirmed for pluripotency and chromosomal integrity.
dc.identifier.citationStem Cell Research Vol.60 (2022)
dc.identifier.doi10.1016/j.scr.2022.102715
dc.identifier.eissn18767753
dc.identifier.issn18735061
dc.identifier.pmid35193007
dc.identifier.scopus2-s2.0-85124838506
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/83789
dc.rights.holderSCOPUS
dc.subjectBiochemistry, Genetics and Molecular Biology
dc.titleGeneration of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell
dc.typeArticle
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85124838506&origin=inward
oaire.citation.titleStem Cell Research
oaire.citation.volume60
oairecerif.author.affiliationSiriraj Hospital

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