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Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease.

Stem cell research - 1 May 2022

Breyer Maximilian, Klein Thomas, Klug Katharina, Klopocki Eva, Üçeyler Nurcan

Abstract excerpt

Human dermal fibroblasts (HDF) were obtained by skin punch biopsy from a 51-year old man with suspected Fabry disease (FD), carrying the hemizygous c.376A > G variant in the α-galactosidase A gene (GLA). Cultured HDF were reprogrammed to induced pluripotent stem cells (iPSC) using a non-modified RNA-based transfection protocol. GLA-S126G-iPSC exhibit typical embryonic stem cell-like morphology, normal karyotype,...

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Identifiers

PMID: 35325818
DOI: 10.1016/j.scr.2022.102747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease.PMID 35325818Read ↗

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