Generation of an induced pluripotent stem cell line that mimics the disease phenotypes from a patient with Fanconi
Sumitha Prameela Bharathan1, Krittika Nandy2, Dhavapriya Palani2
1Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
Abstract:
Generation of Fanconi anemia (FA) patient-specific induced pluripotent stem cells (iPSCs) has been reported to be technically challenging due to the defects in the FA-pathway in the patients' somatic cells. By inducible complementation of FA-pathway, we successfully reprogrammed the fibroblasts of an FA patient to iPSCs. CSCR19i-indCFANCA, one of the iPSC lines generated by the inducible complementation of FA-pathway, was extensively characterized for its pluripotency and karyotype. In the absence of doxycycline (DOX) and FANCA expression, this line showed the cellular phenotypes of FA, suggesting it is an excellent tool for FA disease modeling and drug screening.
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