Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation

Wang Xiaojing; Ma Yanyan; Duan Ruonan; Liu Xiaolin; Zhang Haiyan; Ma Jian; Liu Yi; Sun Wenjie; Liu Qiji

doi:10.1016/j.scr.2020.101727

Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation

Stem Cell Res. 2020 Mar:43:101727. doi: 10.1016/j.scr.2020.101727. Epub 2020 Feb 4.

Authors

Wang Xiaojing¹, Ma Yanyan², Duan Ruonan¹, Liu Xiaolin¹, Zhang Haiyan², Ma Jian², Liu Yi², Sun Wenjie³, Liu Qiji⁴

Affiliations

¹ Key Laboratory of Experimental Teratology, Ministry of Education, Department of Genetics, School of Basic Medical Sciences, Shandong University, Jinan, Shandong 250012, China.
² Qilu Children's Hospital, Shandong University, Jinan, Shandong 250022, China.
³ Key Laboratory of Experimental Teratology, Ministry of Education, Department of Genetics, School of Basic Medical Sciences, Shandong University, Jinan, Shandong 250012, China. Electronic address: sunwenjie@sdu.edu.cn.
⁴ Key Laboratory of Experimental Teratology, Ministry of Education, Department of Genetics, School of Basic Medical Sciences, Shandong University, Jinan, Shandong 250012, China; Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Maternal and Child Health Care Hospital of Shandong Province, Jinan, 250014, China. Electronic address: liuqiji@sdu.edu.cn.

PMID: 32045731
DOI: 10.1016/j.scr.2020.101727

Abstract

KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-integrative vectors. The generated iPSC line (SDUBMSi001-A) had a normal karyotype, expressed pluripotency markers and could be differentiated into three germ layers in vitro.

Publication types

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

MeSH terms

Cell Differentiation
Humans
Induced Pluripotent Stem Cells / metabolism*
Kinesins / genetics*
Male
Middle Aged
Mutation, Missense
Spastic Paraplegia, Hereditary / genetics*

Substances

KIF1A protein, human
Kinesins