Journal
STEM CELL RESEARCH
Volume 51, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102170
Keywords
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Funding
- National Nature Science Foundation of China [81800284]
- Natural Science Foundation of Zhejiang Province of China [LBQ20H020001, 2020C03018, LY20H040003]
- Ministry of Science and Technology of China [2019YFC0120705]
- Science and Technology Foundation of Hangzhou of China [20191203B82]
- Natural Science Foundation of Jiangsu Province of China [BK20180144]
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By reprogramming human urine cells from an X-ALD patient, a stable iPSC line was established with pluripotent marker expression, differentiation potential, and normal karyotype.
The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD). Human urine cells from a 6-year-old male X-ALD patient harboring a ABCD1 gene frameshift (c.2013insA, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi014-A with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The established iPSCs in vitro stably expressed pluripotent markers, had differentiation potential into three germ layers, and maintained a normal 44 + XY karyotype.
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