Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease

Wei Wang; Ya-Feng Lv; Yan-Jun Zhang; Wen-Ji Dong; Ye Zhang

doi:10.1016/j.scr.2020.101937

Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease

Stem Cell Res. 2020 Oct:48:101937. doi: 10.1016/j.scr.2020.101937. Epub 2020 Aug 2.

Authors

Wei Wang¹, Ya-Feng Lv², Yan-Jun Zhang³, Wen-Ji Dong⁴, Ye Zhang⁵

Affiliations

¹ Department of Neurology, China-Japan Friendship Hospital, Beijing 100029 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 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; Genmedicn Biopharma, Beijing 100176 China.
⁴ Genmedicn Biopharma, Beijing 100176 China. Electronic address: dong.wenji@genmedicn.com.
⁵ 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. Electronic address: yezhang@ibms.pumc.edu.cn.

PMID: 32763824
DOI: 10.1016/j.scr.2020.101937

Abstract

We have generated PUMCi001-A, an induced pluripotent stem cells (iPSC) line from dermal fibroblasts of a 13-year-old male Krabbe disease patient with two hemizygous (461C > A and 1244G > A) mutations in Galactocerebrosidase (GALC) gene using a Sendai viral delivery of OCT4, SOX2, KLF4, and c-MYC. The PUMCi001-A iPSC line carried the GALC mutations, displayed typical iPSC morphology, expressed pluripotent stem cell makers, exhibited a normal karyotype and differentiation capacity into three germ layers.

Publication types

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

MeSH terms

Adolescent
Cell Differentiation
Cell Line
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Leukodystrophy, Globoid Cell* / genetics
Male
Sendai virus