10 Matching Annotations
  1. Apr 2023
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    Generation of two human NRF2 knockout iPSC clones using CRISPR/Cas9 editing
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    sciencedirect.com/science/article/pii/S1873506123000764
  3. Sep 2022
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    Generation of two TMEM16A knockout iPSC clones each from a healthy human iPSC line, from a Cystic Fibrosis patient specific line with p.Phe508del mutation and from the gene corrected iPSC line
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    sciencedirect.com/science/article/pii/S1873506122002677
  5. Aug 2021
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    Generation of pulmonary arterial hypertension patient-specific induced pluripotent stem cell lines from three unrelated patients with a heterozygous missense mutation in exon 12, a heterozygous in-frame deletion in exon 3 and a missense mutation in exon 11 of the BMPR2 gene
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    sciencedirect.com/science/article/pii/S1873506121003354
  7. Feb 2021
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    Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene
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    sciencedirect.com/science/article/pii/S1873506120301513
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    Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))
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    sciencedirect.com/science/article/pii/S1873506120302890
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    Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene
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    sciencedirect.com/science/article/pii/S1873506121000544
  11. Dec 2020
  12. www.sciencedirect.com www.sciencedirect.com
    Generation of two human ISG15 knockout iPSC clones using CRISPR/Cas9 editing
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    sciencedirect.com/science/article/pii/S1873506120304360
  13. Sep 2020
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    Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene.
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    sciencedirect.com/science/article/pii/S187350612030009X
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    Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation
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    sciencedirect.com/science/article/pii/S1873506120300489
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    Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C>T [p.Arg2639*]) in the DNAH5 gene
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    sciencedirect.com/science/article/pii/S1873506120301495