Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)

Stem Cell Res. 2020 Dec:49:102028. doi: 10.1016/j.scr.2020.102028. Epub 2020 Oct 9.

Abstract

Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival fibroblasts of a male patient with a heterozygous mutation in exon 34 of the SRCAP gene (c.7330C > T, p.Arg2444*). The iPSC colonies have an atypical morphology with diffuse borders and disintegrate quickly upon touch. Still, the cell line expresses pluripotency markers and differentiates into three germ layers. The cell line can be used as patient-specific disease model and help elucidate the molecular mechanisms involving SRCAP in the context of FLHS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Adenosine Triphosphatases / genetics
  • Craniofacial Abnormalities*
  • Growth Disorders
  • Heart Septal Defects, Ventricular
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mutation

Substances

  • Adenosine Triphosphatases
  • SRCAP protein, human

Supplementary concepts

  • Floating-harbor syndrome