Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A

Abstract

An induced pluripotent stem cell line, HIHCNi003-A (iPSC-ALSP), was created from a skin biopsy of a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) caused by a heterozygous c.2512G>C, p.Val838Leu mutation in the CSF1R gene. Skin fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC, and hLIN28. The iPSC-ALSP line exhibits chromosomal stability with conservation of the CSF1R mutation, expresses pluripotency markers and differentiates into endo-, meso-, and ectodermal cells in vitro.