标题：Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C > T missense mutation
作者：Wang Xiaojing; Ma Yanyan; Duan Ruonan; Liu Xiaolin; Zhang Haiyan; Ma Jian; Liu Yi; Sun Wenjie; Liu Qiji
作者机构：[Wang Xiaojing; Duan Ruonan; Liu Xiaolin; Sun Wenjie; Liu Qiji] Shandong Univ, Key Lab Expt Teratol, Sch Basic Med Sci, Minist Educ,Dept Genet, Jinan 更多[Wang Xiaojing; Duan Ruonan; Liu Xiaolin; Sun Wenjie; Liu Qiji] Shandong Univ, Key Lab Expt Teratol, Sch Basic Med Sci, Minist Educ,Dept Genet, Jinan 250012, Shandong, Peoples R China.; [Ma Yanyan; Zhang Haiyan; Ma Jian; Liu Yi] Shandong Univ, Qilu Childrens Hosp, Jinan 250022, Shandong, Peoples R China.; [Liu Qiji] Maternal & Child Hlth Care Hosp Shandong Prov, Natl Hlth Commiss China, Key Lab Birth Regulat & Control Technol, Jinan 250014, Peoples R China. 收起
摘要：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.
