کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8425453 1546024 2018 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوتکنولوژی یا زیست‌فناوری
پیش نمایش صفحه اول مقاله
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type
چکیده انگلیسی
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Stem Cell Research - Volume 29, May 2018, Pages 143-147
نویسندگان
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