Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient
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) wer...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121000167 |
| Summary: | 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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| ISSN: | 1873-5061 |