title: Generation of an induced pluripotent stem cell line that mimics the disease phenotypes from a patient with Fanconi anemia by conditional complementation.
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.
authors.affiliation: Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Sumitha Prameela
authors.initials: SP
authors.lastname: Bharathan
authors.affiliation: Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Krittika
authors.initials: K
authors.lastname: Nandy
authors.affiliation: Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Dhavapriya
authors.initials: D
authors.lastname: Palani
authors.affiliation: Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Nancy Beryl
authors.initials: NB
authors.lastname: Janet A
authors.affiliation: Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Kasthuri
authors.initials: K
authors.lastname: Natarajan
authors.affiliation: Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Biju
authors.initials: B
authors.lastname: George
authors.affiliation: Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.affiliation: Haematology Department, Christian Medical College, Vellore, Tamil Nadu, India; Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India. Electronic address: rvshaji@cmcvellore.ac.in.
authors.forename: Shaji Ramachandran
authors.initials: SR
authors.lastname: Velayudhan
mesh_terms: D000818:Animals; D059447:Cell Cycle Checkpoints / Q000187:drug effects; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D016172:DNA Fingerprinting; D004317:Doxorubicin / Q000494:pharmacology; D005199:Fanconi Anemia / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism / Q000637:transplantation; D059785:Karyotype; D008297:Male; D051379:Mice; D008813:Mice, Inbred ICR; D008856:Microscopy, Fluorescence; D013724:Teratoma / Q000378:metabolism / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors; D004317:Doxorubicin