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Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.10.003
Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with…
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Keywords:
linked adrenoleukodystrophy;
stem cell;
two induced;
ipsc lines ... See more keywords
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Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.03.004
Abstract: Cystic Fibrosis (CF) is a monogenic, lethal disease caused by mutations in the cystic fibrosis transmembrane conductance (CFTR) gene. Here we report the production of CF-iPS cell lines from two different p.F508del homozygous female patients…
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Keywords:
cystic fibrosis;
fibrosis;
stem cell;
two induced ... See more keywords
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Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101719
Abstract: LMNA mutations are often linked to laminopathies characterized by tissue-specific disorders. We generated two induced pluripotent stem cells lines from patient carrying genetic variant LMNA p.Asp357Val associated with paroxysmal ventricular tachycardia and myopathy. Reprogramming of…
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Keywords:
stem cell;
two induced;
pluripotent stem;
induced pluripotent ... See more keywords