GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant

Stem Cell Res. 2019 Dec:41:101603. doi: 10.1016/j.scr.2019.101603. Epub 2019 Oct 15.

Abstract

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare platelet disorder caused by mutations in RUNX1. We generated an iPSC line (GENYOi005-A) from a FPDMM patient with a non-previously reported variant p.Thr196Ala. Non-integrative Sendai viruses expressing the Yamanaka reprogramming factors were used to reprogram peripheral blood mononuclear cells from this FPDMM patient. Characterization of GENYOi005-A included genetic analysis of RUNX1 locus, Short Tandem Repeats profiling, alkaline phosphatase enzymatic activity, expression of pluripotency-associated factors and differentiation studies in vitro and in vivo. This iPSC line will provide a powerful tool to study developmental alterations of FPDMM patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Coagulation Disorders, Inherited / genetics*
  • Blood Coagulation Disorders, Inherited / pathology*
  • Blood Platelet Disorders / genetics*
  • Blood Platelet Disorders / pathology*
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology*
  • Leukocytes, Mononuclear / metabolism
  • Leukocytes, Mononuclear / pathology*
  • Middle Aged
  • Mutation*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human

Supplementary concepts

  • Platelet Disorder, Familial, with Associated Myeloid Malignancy