Generation of an induced pluripotent stem cell line that mimics the disease phenotypes from a patient with Fanconi anemia by conditional complementation

• DOI: 10.1016/j.scr.2017.02.006
• Publication Date: 2017-02-22T10:47:06Z
• Authors: Sumitha Prameela ...; Krittika Nandy; Dhavapriya Palani; Nancy Beryl Janet A; Kasthuri Natarajan; Biju George; Alok Srivastava; Shaji Ramachandra...
• Keywords: FANCA; FANCD2

Generation of Fanconi anemia (FA) patient-specific induced pluripotent stem cells (iPSCs) has been reported to be technically challenging due the defects in FA-pathway patients' somatic cells. By inducible complementation FA-pathway, we successfully reprogrammed fibroblasts an FA patient iPSCs. CSCR19i-indCFANCA, one iPSC lines generated by was extensively characterized for its pluripotency and karyotype. In absence doxycycline (DOX) FANCA expression, this line showed cellular phenotypes FA, suggesting it is excellent tool disease modeling drug screening.