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

• Published in: Stem cell research Vol. 53; p. 102335
• Main Authors: Eberhardt, Kathrin, Jumo, Hellen, D'Amore, Angelica, Alecu, Julian E., Ziegler, Marvin, Afshar Saber, Wardiya, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.05.2021; Elsevier
• Subjects: Adaptor Protein Complex 4 - genetics; Cerebral Palsy; Child; Heterozygote; Humans; Induced Pluripotent Stem Cells; Spastic Paraplegia, Hereditary - genetics
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2021.102335

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.