Generation of two induced pluripotent stem cell lines from patients with Williams syndrome

Stem Cell Res. 2024 Aug:78:103460. doi: 10.1016/j.scr.2024.103460. Epub 2024 Jun 4.

Abstract

Williams syndrome (WS) is a relatively rare genetic disorder. It arises from a microdeletion in chromosome 7q11.23, resulting in the loss of one copy of more than 20 genes. Disorders in multiple systems, including cardiovascular and nervous systems, occur in patients with WS. Here, we generated two human induced pluripotent stem cell (iPSC) lines from WS patients. Both lines expressed pluripotency markers at gene and protein levels. They possessed normal karyotypes and the potential to differentiate into three germ layers. They serve as a useful tool to study disease mechanism, test drugs, and identify promising therapeutics for patients with WS.

Keywords: Human induced pluripotent stem cells; Williams syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Male
  • Williams Syndrome* / genetics
  • Williams Syndrome* / pathology