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Generation of iPSC line ERCi004-A from human dermal fibroblasts of a patient with maturity-onset diabetes of the young type 3 caused by a heterozygous mutation in the <i>HNF1A</i> gene

2024-12-05

Abstract excerpt

Maturity-onset diabetes of the young type 3 (MODY3) disorder is characterized by an autosomal dominant type of inheritance and highly heterogeneous clinical phenotype influenced by type and position of mutation in the HNF1A gene. We reprogrammed dermal fibroblasts derived from a patient with MODY3 carrying a heterozygous mutation in the site encoding the transactivation domain of the HNF1A protein (c. 864delGinsC...

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Literature Corpus work
112bc313-6ba0-5442-a14c-1a99fac6f519
DOI
10.1101/2024.12.04.626820
Open publication

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