Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene

Thomas Klein, Katharina Günther (Co-author), Chee Keong Kwok, Frank Edenhofer, Nurcan Üçeyler

    Research output: Contribution to journalCase reportpeer-review

    Abstract

    Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.

    Original languageEnglish
    Pages (from-to)222-226
    Number of pages5
    JournalStem Cell Research
    Volume31
    DOIs
    Publication statusPublished - Aug 2018

    Keywords

    • Adult
    • Exons
    • Female
    • Fibroblasts/metabolism
    • Heterozygote
    • Humans
    • Induced Pluripotent Stem Cells/metabolism
    • Mutation, Missense
    • Skin/metabolism
    • alpha-Galactosidase/metabolism

    Fingerprint

    Dive into the research topics of 'Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene'. Together they form a unique fingerprint.

    Cite this