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 iP...

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Main Authors: Ya-feng Lv, Jing Wang, Chun-yu Cao, Ye Zhang, Wei Wang
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612200294X
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author Ya-feng Lv
Jing Wang
Chun-yu Cao
Ye Zhang
Wei Wang
author_facet Ya-feng Lv
Jing Wang
Chun-yu Cao
Ye Zhang
Wei Wang
author_sort Ya-feng Lv
collection DOAJ
description 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.
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spelling doaj.art-43f5cd9be8e54d45bf6e576d8bdb71522022-12-22T04:17:15ZengElsevierStem Cell Research1873-50612022-12-0165102945Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutationYa-feng Lv0Jing Wang1Chun-yu Cao2Ye Zhang3Wei Wang4Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, ChinaHubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, ChinaHubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, ChinaState 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, ChinaDepartment of Neurology, China-Japan Friendship Hospital, Beijing 100029, China; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S187350612200294X
spellingShingle Ya-feng Lv
Jing Wang
Chun-yu Cao
Ye Zhang
Wei Wang
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 Research
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
url http://www.sciencedirect.com/science/article/pii/S187350612200294X
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