کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5522784 1401347 2016 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوتکنولوژی یا زیست‌فناوری
پیش نمایش صفحه اول مقاله
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC
چکیده انگلیسی

Fibroblasts from a male patient with compound heterozygous variants in the tyrosine hydroxylase gene (TH; OMIM: 191290; c.[385-C > T]; [692-G > C]/p.[R129*]; [R231P]), the rate-limiting enzyme for dopamine synthesis, were reprogrammed to iPSCs using episomal reprogramming delivering the reprogramming factors Oct3/4, Sox2, L-Myc, Lin28, Klf4 and p53 shRNA Okita et al. (2011). Pluripotency of TH-1 iPSC was verified by immunohistochemistry and RT-PCR analysis. Cells exhibited a normal karyotype and differentiated spontaneously into the 3 germ layers in vitro. TH-1 iPSC represents the first model system to study the pathomechanism of this rare metabolic disease and provides a useful tool for drug testing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Stem Cell Research - Volume 17, Issue 3, November 2016, Pages 580-583
نویسندگان
, , , , , ,