Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val.

Abstract excerpt

Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR was generated from peripheral blood mononuclear cells of a 28 years old male patient carrying the TTR mutation p.Phe53Val. We used non-integrated episomal...

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