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Induced pluripotent stem (iPS) cells for modelling ofgenetic disorders

عنوان مقاله: Induced pluripotent stem (iPS) cells for modelling ofgenetic disorders
شناسه ملی مقاله: CHGGE01_036
منتشر شده در کنفرانس بین المللی ژنتیک و ژنومیکس انسانی در سال 1400
مشخصات نویسندگان مقاله:

Mahsa Rahgoshay - Department of Hematology and Medical Laboratory Sciences, Faculty of Allied Medicine,Kerman University of Medical Sciences, Kerman, Iran۱
Roqaye Karimi
Amir Atashi
Mansoureh Ajami

خلاصه مقاله:
The most critical component in elucidating the pathophysiologicalmechanisms of genetic disorders is the need for an ideal model system, thatcan recapitulate the pathophysiology and clinical phenotypes. The tissueculture of immortalized cell lines represents a valuable source for biologicalstudies but is greatly restricted to tumor cell lines. Furthermore, humanembryonic stem cells (hESCs) constitute an immortal propagation ofpluripotent stem cells and are shown to carry genetic deficiencies, but thevast majority of complex polygenic diseases are not included in this pool.Moreover, Murine models engineered to carry genetic mutations play a keyrole in the understanding of disease pathogenesis but provide a restrictedrepresentation of human pathophysiology and do notalways comprehensively mimic human diseases. In contrast, enforcedexpression of pluripotent transcription factors, Oct۴, c-Myc, Sox۲, andKlf۴ could potentially reprogram somatic cells to generate inducedpluripotent stem (iPS) cells, an approach that has been accomplished byvarious groups worldwide. Using patient-specific iPSCs in the past ۱۰ yearshas witnessed tremendous hope in estimating the effects of drugs, identifyingthe responsible mutations, and regenerative medicine studies. Up to date, adiverse array of genetic disorders has been modeled using iPSCs such asspinal muscular atrophy (SMA) ,Parkinson’s disease, Huntington disease,Alzheimer’s disease, and thalassemia. Finally ,iPSCs are an encouraging toolfor in vitro congenital disease modeling owning to their several key featuresincluding, human origin, easy accessibility and scalability, and unlimitedresource of relevant phenotypic cells.

کلمات کلیدی:
Induced pluripotent stem (iPSC) cells ,Disease modelling,Genetic diseases ,In vitro models

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1516448/