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

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-H...

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Détails bibliographiques
Publié dans:Stem Cell Res
Auteurs principaux: Teinert, Julian, Behne, Robert, D’Amore, Angelica, Wimmer, Miriam, Dwyer, Sean, Chen, Teresa, Buttermore, Elizabeth D., Chen, Ivy Pin-Fang, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Format: Artigo
Langue:Inglês
Publié: 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7269118/
https://ncbi.nlm.nih.gov/pubmed/31525725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2019.101575
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