Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD).

Abstract excerpt

X-linked adrenoleukodystrophy is a metabolic disease associated with mutations in the ABCD1 gene (ATP-binding cassette subfamily D). Numerous pathogenic variants in this gene lead to a wide spectrum of symptoms, including adrenal insufficiency, slowly progressive dying-back axonopathy and demyelination of the central nervous system in specific phenotypes. The induced pluripotent stem cell line was derived from a...

Topics

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• Adrenoleukodystrophy
• ATP Binding Cassette Transporter, Subfamily D, Member 1
• Leukocytes, Mononuclear
• Mutation
• Phenotype