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

Ya-Feng Lv; Jing Wang; Chun-Yu Cao; Ye Zhang; Wei Wang

doi:10.1016/j.scr.2022.102945

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

Stem Cell Res. 2022 Dec:65:102945. doi: 10.1016/j.scr.2022.102945. Epub 2022 Oct 13.

Authors

Ya-Feng Lv¹, Jing Wang¹, Chun-Yu Cao¹, Ye Zhang², Wei Wang³

Affiliations

¹ Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China.
² State Key Laboratory of Medical Molecular Biology, Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.
³ Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China. Electronic address: stevanwei@163.com.

PMID: 36270068
DOI: 10.1016/j.scr.2022.102945

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Galactosylceramidase* / genetics
Humans
Induced Pluripotent Stem Cells*
Mutation

Substances

Galactosylceramidase