Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)


Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset 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 biallelic, loss-of-function variants in AP4M1 and their sex-matched parents (asymptomatic, heterozygous carriers). Following reprogramming using non-integrating Sendai virus, iPSCs were characterized following standard protocols including karyotyping, embryoid body formation, pluripotency marker expression and STR profiling. These first iPSC lines for SPG50 provide a valuable resource for studying this rare disease and related forms of hereditary spastic paraplegia. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Eberhardt K, Jumo H, D'Amore A, Alecu JE, Ziegler M, Afshar Saber W, Sahin M, Ebrahimi-Fakhari D
Journal Stem cell research
Publication Date 2021 May;53:102335
PubMed 34087981
PubMed Central PMC8824776
DOI 10.1016/j.scr.2021.102335

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