Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

Summary

Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induced pluripotent stem cells (iPSCs) from three AP-4-HSP patients with compound-heterozygous, loss-of-function variants in AP4B1 and sex-matched parents. Fibroblasts were reprogrammed using non-integrating Sendai virus. iPSCs were characterized according to standard protocols including karyotyping, embryoid body formation, pluripotency marker expression and STR profiling. These first iPSC lines for SPG47 provide a valuable resource for studying this rare disease and related forms of hereditary spastic paraplegia. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D
Journal Stem cell research
Publication Date 2019 Oct;40:101575
PubMed 31525725
DOI 10.1016/j.scr.2019.101575

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