Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation


A KD-control human induced pluripotent stem cells (iPSCs) line (PUMCi002-A) was generated from dermal fibroblasts of a Krabbe patient's father with a c.461C>A mutation in Galactocerebrosidase (GALC) gene. The pluripotency, in vitro differentiation potential and karyotype stability of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in GALC-associated Krabbe disease and provide plausible new therapeutic directions. Copyright © 2022. Published by Elsevier B.V.

Authors Lv YF, Wang J, Cao CY, Zhang Y, Wang W
Journal Stem cell research
Publication Date 2022 Oct 13;65:102945
PubMed 36270068
DOI 10.1016/j.scr.2022.102945

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