Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

Stem Cell Res. 2019 May:37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.

Abstract

Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a 2 years old male patient with CALFAN Syndrome due to a homozygous nonsense variant in SCYL1 (c.[1882C > T]; c.[1882C > T]/p.[Gln628*]; p.[Gln628*]) and generated DHMCi005-A using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Cells showed a normal karyotype. Pluripotency was proven using immunohistochemistry, RT-PCR, and flow cytometry. Differentiation into all germ layers was shown using the STEMdiff™ Trilineage Differentiation Kit (Stemcell Technologies).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics*
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming*
  • Child, Preschool
  • Cholestasis / genetics
  • Cholestasis / pathology
  • DNA-Binding Proteins / genetics*
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Liver Failure, Acute / genetics*
  • Liver Failure, Acute / pathology
  • Male
  • Mutation*
  • Nerve Degeneration / genetics
  • Nerve Degeneration / pathology
  • gamma-Glutamyltransferase / deficiency

Substances

  • Adaptor Proteins, Vesicular Transport
  • DNA-Binding Proteins
  • SCYL1 protein, human
  • gamma-Glutamyltransferase