Researchers at Boston Children's Hospital have generated human stem cells from a family with HSP type 47 (AP4B1).

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Publication: Human stem cells for the rare HSP form SPG47

Scientists led by Darius Ebrahimi-Fakhar at Boston Children's Hospital succeeded in reprogramming connective tissue cells of a family with the rare HSP form SPG47 into human stem cells (iPSC). SPG47 is caused by mutations in the adapter protein complex 4 - gene AP4B1. These first iPSC lines for SPG47 now allow further research into SPG47 and related diseases.

Reference: Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019;40:101575.