Generation of an Induced Pluripotent Stem Cell (iPSC) Line From a 42-year-old Adult Cerebral Type X-linked Adrenoleukodystrophy (X-ALD) Patient

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Authors: Gyu-Bum Yeon ; Daryeon Son ; Phil Jun Kang ; Seung-Min Oh ; Hun Lim ; Hoon-Chul Kang ; Seungkwon You ; Dae-Sung Kim

MeSH: ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics* ; Adrenoleukodystrophy / genetics* ; Adult ; Cell Differentiation ; Cell Line* ; Cellular Reprogramming Techniques ; Humans ; INDEL Mutation ; Induced Pluripotent Stem Cells* ; Karyotype ; Male

Abstract: X-linked Adrenoleukodystrophy (X-ALD) is a neuro-metabolic disorder that is caused by malfunction of a peroxisomal transporter protein, adenosine ATP-binding cassette transporter superfamily D member 1 (ABCD1). We established an induced pluripotent stem cell (iPSC) line from a 42-year-old male X-ALD patient-derived dermal fibroblasts with Sendai virus-mediated reprogramming. Established iPSCs stably expanded, expressed genes of pluripotency, and maintained normal karyotype. In vitro differentiation assay revealed the characteristics of all three germ layers.